HSAN7
MCID: NRP031
MIFTS: 32

Neuropathy, Hereditary Sensory and Autonomic, Type Vii (HSAN7)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

MalaCards integrated aliases for Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

Name: Neuropathy, Hereditary Sensory and Autonomic, Type Vii 57 53 29 6 72
Hsan7 57 12 53 59 74
Hereditary Sensory and Autonomic Neuropathy Type Vii 12 53 59 74
Hereditary Sensory and Autonomic Neuropathy Type 7 12 53 59
Hereditary Sensory and Autonomic Neuropathy with Hyperhidrosis and Gastrointestinal Dysfunction 53 59
Congenital Insensitivity to Pain with Hyperhidrosis and Gastrointestinal Dysfunction 53 59
Hsan with Hyperhidrosis and Gastrointestinal Dysfunction 53 59
Cip with Hyperhidrosis and Gastrointestinal Dysfunction 53 59
Hsan Vii 57 74
Insensitivity to Pain, Congenital, with Gastrointestinal Dysfunction and Hyperhidrosis 57
Congenital Insensitivity to Pain with Gastrointestinal Dysfunction and Hyperhidrosis 74
Neuropathy, Sensory and Autonomic, Hereditary, Type Vii 40
Neuropathy, Hereditary Sensory and Autonomic, 7 74

Characteristics:

Orphanet epidemiological data:

59
hereditary sensory and autonomic neuropathy type 7
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
three unrelated patients with the same de novo mutation have been reported (last curated december 2015)


HPO:

32
neuropathy, hereditary sensory and autonomic, type vii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070149
MeSH 44 D009477
ICD10 33 G60.8
ICD10 via Orphanet 34 G60.8
Orphanet 59 ORPHA391397
UMLS 72 C3809882

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

NIH Rare Diseases : 53 Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called "autosomal dominant."

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type Vii, also known as hsan7, is related to hereditary sensory neuropathy and anhidrosis, and has symptoms including constipation, pruritus and diarrhea. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Vii is SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11). Affiliated tissues include bone, and related phenotypes are hyperhidrosis and muscle weakness

Disease Ontology : 12 A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has material basis in heterozygous mutation in the SCN11A gene on chromosome 3p22.

UniProtKB/Swiss-Prot : 74 Neuropathy, hereditary sensory and autonomic, 7: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction.

More information from OMIM: 615548 PS162400

Related Diseases for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Human phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

32 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 muscle weakness 32 HP:0001324
3 constipation 32 HP:0002019
4 self-injurious behavior 32 HP:0100716
5 pruritus 32 HP:0000989
6 motor delay 32 HP:0001270
7 diarrhea 32 HP:0002014
8 abnormal autonomic nervous system physiology 32 HP:0012332
9 pain insensitivity 32 HP:0007021

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperhidrosis
pruritis
slow-healing wounds due to painless injuries
self injury

Neurologic Central Nervous System:
autonomic dysfunction
delayed motor development, mild
dystonic posturing (in some patients)

Muscle Soft Tissue:
muscle weakness, mild

Abdomen Gastrointestinal:
constipation
diarrhea
gastrointestinal dysfunction

Skeletal:
painless fractures

Neurologic Peripheral Nervous System:
insensitivity to pain
inability to feel pain

Clinical features from OMIM:

615548

UMLS symptoms related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii:


constipation, pruritus, diarrhea

Drugs & Therapeutics for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Genetic Tests for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Genetic tests related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

# Genetic test Affiliating Genes
1 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 29 SCN11A

Anatomical Context for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

MalaCards organs/tissues related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

41
Bone

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Articles related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

(showing 5, show less)
# Title Authors PMID Year
1
A disease mutation reveals a role for NaV1.9 in acute itch. 8 71
30395542 2018
2
The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. 8 71
25118027 2015
3
A de novo gain-of-function mutation in SCN11A causes loss of pain perception. 8 71
24036948 2013
4
Congenital Insensitivity to Pain Overview 71
29419974 2018
5
Anesthetic Management of a Patient With De Novo Hereditary Sensory and Autonomic Neuropathy, Type VII: A Case Report. 38
29077663 2018

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

6 (showing 236, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN11A NM_001349253.2(SCN11A): c.1187T> C (p.Leu396Pro) single nucleotide variant Pathogenic rs1085307142 3:38950600-38950600 3:38909109-38909109
2 SCN11A NM_001349253.2(SCN11A): c.2432T> C (p.Leu811Pro) single nucleotide variant Pathogenic rs483352920 3:38936427-38936427 3:38894936-38894936
3 SCN11A NM_001349253.2(SCN11A): c.3904C> T (p.Leu1302Phe) single nucleotide variant Pathogenic rs1553633131 3:38908859-38908859 3:38867368-38867368
4 SCN11A NM_001349253.2(SCN11A): c.3473T> C (p.Leu1158Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs141686175 3:38913706-38913706 3:38872215-38872215
5 SCN11A NM_001349253.2(SCN11A): c.5135T> C (p.Met1712Thr) single nucleotide variant Uncertain significance 3:38888426-38888426 3:38846935-38846935
6 SCN11A NM_001349253.2(SCN11A): c.5083G> A (p.Gly1695Ser) single nucleotide variant Uncertain significance 3:38888478-38888478 3:38846987-38846987
7 SCN11A NM_001349253.2(SCN11A): c.5071G> A (p.Ala1691Thr) single nucleotide variant Uncertain significance 3:38888490-38888490 3:38846999-38846999
8 SCN11A NM_001349253.2(SCN11A): c.4178C> A (p.Ala1393Asp) single nucleotide variant Uncertain significance 3:38892121-38892121 3:38850630-38850630
9 SCN11A NM_001349253.2(SCN11A): c.2654T> C (p.Met885Thr) single nucleotide variant Uncertain significance 3:38936205-38936205 3:38894714-38894714
10 SCN11A NM_001349253.2(SCN11A): c.2288G> A (p.Arg763His) single nucleotide variant Uncertain significance 3:38938451-38938451 3:38896960-38896960
11 SCN11A NM_001349253.2(SCN11A): c.2009G> A (p.Arg670His) single nucleotide variant Uncertain significance 3:38941398-38941398 3:38899907-38899907
12 SCN11A NM_001349253.2(SCN11A): c.1654T> A (p.Ser552Thr) single nucleotide variant Uncertain significance 3:38945544-38945544 3:38904053-38904053
13 SCN11A NM_001349253.2(SCN11A): c.429C> A (p.Cys143Ter) single nucleotide variant Uncertain significance 3:38986961-38986961 3:38945470-38945470
14 SCN11A NM_001349253.2(SCN11A): c.3620G> T (p.Cys1207Phe) single nucleotide variant Uncertain significance 3:38913075-38913075 3:38871584-38871584
15 SCN11A NM_001349253.2(SCN11A): c.3571G> A (p.Val1191Ile) single nucleotide variant Uncertain significance 3:38913124-38913124 3:38871633-38871633
16 SCN11A NM_001349253.2(SCN11A): c.1971G> C (p.Met657Ile) single nucleotide variant Uncertain significance 3:38941436-38941436 3:38899945-38899945
17 SCN11A NM_001349253.2(SCN11A): c.1560G> T (p.Gln520His) single nucleotide variant Uncertain significance 3:38946726-38946726 3:38905235-38905235
18 SCN11A NM_001349253.2(SCN11A): c.1192_1194GTT[1] (p.Val399del) short repeat Uncertain significance 3:38950590-38950592 3:38909099-38909101
19 SCN11A NM_001349253.2(SCN11A): c.489G> A (p.Glu163=) single nucleotide variant Uncertain significance 3:38968422-38968422 3:38926931-38926931
20 SCN11A NM_001349253.2(SCN11A): c.4748A> G (p.Tyr1583Cys) single nucleotide variant Uncertain significance 3:38888813-38888813 3:38847322-38847322
21 SCN11A NM_001349253.2(SCN11A): c.3851G> A (p.Gly1284Asp) single nucleotide variant Uncertain significance 3:38908912-38908912 3:38867421-38867421
22 SCN11A NM_001349253.2(SCN11A): c.3485A> G (p.Glu1162Gly) single nucleotide variant Uncertain significance 3:38913694-38913694 3:38872203-38872203
23 SCN11A NM_001349253.2(SCN11A): c.2522G> A (p.Arg841Gln) single nucleotide variant Uncertain significance 3:38936337-38936337 3:38894846-38894846
24 SCN11A NM_001349253.2(SCN11A): c.2319G> A (p.Met773Ile) single nucleotide variant Uncertain significance 3:38938420-38938420 3:38896929-38896929
25 SCN11A NM_001349253.2(SCN11A): c.2307G> A (p.Trp769Ter) single nucleotide variant Uncertain significance 3:38938432-38938432 3:38896941-38896941
26 SCN11A NM_001349253.2(SCN11A): c.2230del (p.Ser744fs) deletion Uncertain significance 3:38938509-38938509 3:38897018-38897018
27 SCN11A NM_001349253.2(SCN11A): c.1779C> A (p.Phe593Leu) single nucleotide variant Uncertain significance 3:38945419-38945419 3:38903928-38903928
28 SCN11A NM_001349253.2(SCN11A): c.1385G> A (p.Gly462Asp) single nucleotide variant Uncertain significance 3:38949528-38949528 3:38908037-38908037
29 SCN11A NM_001349253.2(SCN11A): c.974A> G (p.Gln325Arg) single nucleotide variant Uncertain significance 3:38951684-38951684 3:38910193-38910193
30 SCN11A NM_001349253.2(SCN11A): c.950T> C (p.Met317Thr) single nucleotide variant Uncertain significance 3:38961435-38961435 3:38919944-38919944
31 SCN11A NM_001349253.2(SCN11A): c.887C> T (p.Ala296Val) single nucleotide variant Uncertain significance 3:38962572-38962572 3:38921081-38921081
32 SCN11A NM_001349253.2(SCN11A): c.4143T> G (p.Ile1381Met) single nucleotide variant Uncertain significance 3:38892156-38892156 3:38850665-38850665
33 SCN11A NM_001349253.2(SCN11A): c.4057-7T> A single nucleotide variant Uncertain significance 3:38892249-38892249 3:38850758-38850758
34 SCN11A NM_001349253.2(SCN11A): c.3634G> T (p.Asp1212Tyr) single nucleotide variant Uncertain significance 3:38913061-38913061 3:38871570-38871570
35 SCN11A NM_001349253.2(SCN11A): c.3594_3596CTT[1] (p.Phe1200del) short repeat Uncertain significance 3:38913096-38913098 3:38871605-38871607
36 SCN11A NM_001349253.2(SCN11A): c.2770G> A (p.Asp924Asn) single nucleotide variant Uncertain significance 3:38936089-38936089 3:38894598-38894598
37 SCN11A NM_001349253.2(SCN11A): c.2174G> A (p.Arg725His) single nucleotide variant Uncertain significance 3:38938565-38938565 3:38897074-38897074
38 SCN11A NM_001349253.2(SCN11A): c.2124G> A (p.Leu708=) single nucleotide variant Uncertain significance 3:38938615-38938615 3:38897124-38897124
39 SCN11A NM_001349253.2(SCN11A): c.2095G> A (p.Gly699Arg) single nucleotide variant Uncertain significance 3:38938644-38938644 3:38897153-38897153
40 SCN11A NM_001349253.2(SCN11A): c.2093T> C (p.Val698Ala) single nucleotide variant Uncertain significance 3:38938646-38938646 3:38897155-38897155
41 SCN11A NM_001349253.2(SCN11A): c.959+5G> A single nucleotide variant Uncertain significance 3:38961421-38961421 3:38919930-38919930
42 SCN11A NM_001349253.2(SCN11A): c.673del (p.Arg225fs) deletion Uncertain significance 3:38966945-38966945 3:38925454-38925454
43 SCN11A NM_001349253.2(SCN11A): c.233T> C (p.Leu78Pro) single nucleotide variant Uncertain significance 3:38991621-38991621 3:38950130-38950130
44 SCN11A NM_001349253.2(SCN11A): c.134_136del (p.Gly45del) deletion Uncertain significance 3:38991718-38991720 3:38950227-38950229
45 SCN11A NM_001349253.2(SCN11A): c.4837G> A (p.Glu1613Lys) single nucleotide variant Uncertain significance 3:38888724-38888724 3:38847233-38847233
46 SCN11A NM_001349253.2(SCN11A): c.5306C> T (p.Pro1769Leu) single nucleotide variant Uncertain significance 3:38888255-38888255 3:38846764-38846764
47 SCN11A NM_001349253.2(SCN11A): c.5242A> G (p.Met1748Val) single nucleotide variant Uncertain significance 3:38888319-38888319 3:38846828-38846828
48 SCN11A NM_001349253.2(SCN11A): c.5084G> A (p.Gly1695Asp) single nucleotide variant Uncertain significance 3:38888477-38888477 3:38846986-38846986
49 SCN11A NM_001349253.2(SCN11A): c.5036G> A (p.Arg1679His) single nucleotide variant Uncertain significance 3:38888525-38888525 3:38847034-38847034
50 SCN11A NM_001349253.2(SCN11A): c.5015T> C (p.Leu1672Ser) single nucleotide variant Uncertain significance 3:38888546-38888546 3:38847055-38847055
51 SCN11A NM_001349253.2(SCN11A): c.4966C> G (p.Pro1656Ala) single nucleotide variant Uncertain significance 3:38888595-38888595 3:38847104-38847104
52 SCN11A NM_001349253.2(SCN11A): c.4931C> T (p.Ser1644Phe) single nucleotide variant Uncertain significance 3:38888630-38888630 3:38847139-38847139
53 SCN11A NM_001349253.2(SCN11A): c.4646C> T (p.Thr1549Ile) single nucleotide variant Uncertain significance 3:38888915-38888915 3:38847424-38847424
54 SCN11A NM_001349253.2(SCN11A): c.4441C> T (p.Arg1481Ter) single nucleotide variant Uncertain significance 3:38889120-38889120 3:38847629-38847629
55 SCN11A NM_001349253.2(SCN11A): c.4397G> A (p.Arg1466His) single nucleotide variant Uncertain significance 3:38889164-38889164 3:38847673-38847673
56 SCN11A NM_001349253.2(SCN11A): c.3850G> A (p.Gly1284Ser) single nucleotide variant Uncertain significance 3:38908913-38908913 3:38867422-38867422
57 SCN11A NM_001349253.2(SCN11A): c.3736G> T (p.Ala1246Ser) single nucleotide variant Uncertain significance 3:38912959-38912959 3:38871468-38871468
58 SCN11A NM_001349253.2(SCN11A): c.3631A> G (p.Thr1211Ala) single nucleotide variant Uncertain significance 3:38913064-38913064 3:38871573-38871573
59 SCN11A NM_001349253.2(SCN11A): c.3449G> T (p.Arg1150Leu) single nucleotide variant Uncertain significance 3:38913730-38913730 3:38872239-38872239
60 SCN11A NM_001349253.2(SCN11A): c.3421A> G (p.Met1141Val) single nucleotide variant Uncertain significance 3:38913758-38913758 3:38872267-38872267
61 SCN11A NM_001349253.2(SCN11A): c.3137G> A (p.Arg1046Gln) single nucleotide variant Uncertain significance 3:38924806-38924806 3:38883315-38883315
62 SCN11A NM_001349253.2(SCN11A): c.3132C> A (p.Asn1044Lys) single nucleotide variant Uncertain significance 3:38924811-38924811 3:38883320-38883320
63 SCN11A NM_001349253.2(SCN11A): c.3118G> A (p.Val1040Ile) single nucleotide variant Uncertain significance 3:38924825-38924825 3:38883334-38883334
64 SCN11A NM_001349253.2(SCN11A): c.2912A> C (p.Glu971Ala) single nucleotide variant Uncertain significance 3:38927653-38927653 3:38886162-38886162
65 SCN11A NM_001349253.2(SCN11A): c.2776G> A (p.Val926Ile) single nucleotide variant Uncertain significance 3:38936083-38936083 3:38894592-38894592
66 SCN11A NM_001349253.2(SCN11A): c.2661G> A (p.Met887Ile) single nucleotide variant Uncertain significance 3:38936198-38936198 3:38894707-38894707
67 SCN11A NM_001349253.2(SCN11A): c.2596C> T (p.Gln866Ter) single nucleotide variant Uncertain significance 3:38936263-38936263 3:38894772-38894772
68 SCN11A NM_001349253.2(SCN11A): c.2546C> G (p.Thr849Ser) single nucleotide variant Uncertain significance 3:38936313-38936313 3:38894822-38894822
69 SCN11A NM_001349253.2(SCN11A): c.2521C> T (p.Arg841Trp) single nucleotide variant Uncertain significance 3:38936338-38936338 3:38894847-38894847
70 SCN11A NM_001349253.2(SCN11A): c.2474G> A (p.Gly825Glu) single nucleotide variant Uncertain significance 3:38936385-38936385 3:38894894-38894894
71 SCN11A NM_001349253.2(SCN11A): c.2395A> G (p.Lys799Glu) single nucleotide variant Uncertain significance 3:38938344-38938344 3:38896853-38896853
72 SCN11A NM_001349253.2(SCN11A): c.2381T> C (p.Ile794Thr) single nucleotide variant Uncertain significance 3:38938358-38938358 3:38896867-38896867
73 SCN11A NM_001349253.2(SCN11A): c.2342A> G (p.Asn781Ser) single nucleotide variant Uncertain significance 3:38938397-38938397 3:38896906-38896906
74 SCN11A NM_001349253.2(SCN11A): c.2109C> G (p.Ser703Arg) single nucleotide variant Uncertain significance 3:38938630-38938630 3:38897139-38897139
75 SCN11A NM_001349253.2(SCN11A): c.2008C> G (p.Arg670Gly) single nucleotide variant Uncertain significance 3:38941399-38941399 3:38899908-38899908
76 SCN11A NM_001349253.2(SCN11A): c.1970T> C (p.Met657Thr) single nucleotide variant Uncertain significance 3:38941437-38941437 3:38899946-38899946
77 SCN11A NM_001349253.2(SCN11A): c.1964A> T (p.Asp655Val) single nucleotide variant Uncertain significance 3:38941443-38941443 3:38899952-38899952
78 SCN11A NM_001349253.2(SCN11A): c.1934A> G (p.Asp645Gly) single nucleotide variant Uncertain significance 3:38941473-38941473 3:38899982-38899982
79 SCN11A NM_001349253.2(SCN11A): c.1842G> A (p.Leu614=) single nucleotide variant Uncertain significance 3:38945356-38945356 3:38903865-38903865
80 SCN11A NM_001349253.2(SCN11A): c.1621G> A (p.Glu541Lys) single nucleotide variant Uncertain significance 3:38945577-38945577 3:38904086-38904086
81 SCN11A NM_001349253.2(SCN11A): c.1602G> T (p.Lys534Asn) single nucleotide variant Uncertain significance 3:38946684-38946684 3:38905193-38905193
82 SCN11A NM_001349253.2(SCN11A): c.1576G> C (p.Val526Leu) single nucleotide variant Uncertain significance 3:38946710-38946710 3:38905219-38905219
83 SCN11A NM_001349253.2(SCN11A): c.1498C> T (p.Arg500Ter) single nucleotide variant Uncertain significance 3:38946788-38946788 3:38905297-38905297
84 SCN11A NM_001349253.2(SCN11A): c.1403C> A (p.Ser468Tyr) single nucleotide variant Uncertain significance 3:38949510-38949510 3:38908019-38908019
85 SCN11A NM_001349253.2(SCN11A): c.1223A> G (p.Lys408Arg) single nucleotide variant Uncertain significance 3:38950564-38950564 3:38909073-38909073
86 SCN11A NM_001349253.2(SCN11A): c.1019C> T (p.Thr340Met) single nucleotide variant Uncertain significance 3:38951639-38951639 3:38910148-38910148
87 SCN11A NM_001349253.2(SCN11A): c.854C> T (p.Ser285Leu) single nucleotide variant Uncertain significance 3:38962605-38962605 3:38921114-38921114
88 SCN11A NM_001349253.2(SCN11A): c.516del (p.Phe172fs) deletion Uncertain significance 3:38968395-38968395 3:38926908-38926908
89 SCN11A NM_001349253.2(SCN11A): c.367A> G (p.Ile123Val) single nucleotide variant Uncertain significance 3:38988299-38988299 3:38946808-38946808
90 SCN11A NM_001349253.2(SCN11A): c.364G> A (p.Ala122Thr) single nucleotide variant Uncertain significance 3:38988302-38988302 3:38946811-38946811
91 SCN11A NM_001349253.2(SCN11A): c.261T> A (p.Asn87Lys) single nucleotide variant Uncertain significance 3:38991593-38991593 3:38950102-38950102
92 SCN11A NC_000003.11: g.(?_38966886)_(38967020_?)del deletion Uncertain significance 3:38966886-38967020 3:38925395-38925529
93 SCN11A NM_001349253.2(SCN11A): c.4327+2T> G single nucleotide variant Uncertain significance 3:38891970-38891970 3:38850479-38850479
94 SCN11A NM_001349253.2(SCN11A): c.3391_3393+7del deletion Uncertain significance 3:38921434-38921443 3:38879943-38879952
95 SCN11A NM_001349253.2(SCN11A): c.268-3C> T single nucleotide variant Uncertain significance 3:38988401-38988401 3:38946910-38946910
96 SCN11A NM_001349253.2(SCN11A): c.180G> T (p.Arg60Ser) single nucleotide variant Uncertain significance rs149547996 3:38991674-38991674 3:38950183-38950183
97 SCN11A NM_001349253.2(SCN11A): c.1730C> T (p.Pro577Leu) single nucleotide variant Uncertain significance rs374524879 3:38945468-38945468 3:38903977-38903977
98 SCN11A NM_001349253.2(SCN11A): c.4604A> G (p.Lys1535Arg) single nucleotide variant Uncertain significance rs1553630322 3:38888957-38888957 3:38847466-38847466
99 SCN11A NM_001349253.2(SCN11A): c.3724A> G (p.Asn1242Asp) single nucleotide variant Uncertain significance rs769151002 3:38912971-38912971 3:38871480-38871480
100 SCN11A NM_001349253.2(SCN11A): c.3042A> T (p.Gln1014His) single nucleotide variant Uncertain significance rs1553635601 3:38926801-38926801 3:38885310-38885310
101 SCN11A NM_001349253.2(SCN11A): c.2693G> A (p.Gly898Asp) single nucleotide variant Uncertain significance rs1301732976 3:38936166-38936166 3:38894675-38894675
102 SCN11A NM_001349253.2(SCN11A): c.2530T> C (p.Cys844Arg) single nucleotide variant Uncertain significance rs201598026 3:38936329-38936329 3:38894838-38894838
103 SCN11A NM_001349253.2(SCN11A): c.2384C> T (p.Thr795Met) single nucleotide variant Uncertain significance rs767279633 3:38938355-38938355 3:38896864-38896864
104 SCN11A NM_001349253.2(SCN11A): c.1904A> G (p.His635Arg) single nucleotide variant Uncertain significance rs1434002501 3:38941503-38941503 3:38900012-38900012
105 SCN11A NM_001349253.2(SCN11A): c.5067C> G (p.Phe1689Leu) single nucleotide variant Uncertain significance rs201107889 3:38888494-38888494 3:38847003-38847003
106 SCN11A NM_001349253.2(SCN11A): c.5063C> T (p.Ala1688Val) single nucleotide variant Uncertain significance rs79184444 3:38888498-38888498 3:38847007-38847007
107 SCN11A NM_001349253.2(SCN11A): c.4879T> C (p.Tyr1627His) single nucleotide variant Uncertain significance rs114854233 3:38888682-38888682 3:38847191-38847191
108 SCN11A NM_001349253.2(SCN11A): c.4433G> A (p.Arg1478Gln) single nucleotide variant Uncertain significance rs758597298 3:38889128-38889128 3:38847637-38847637
109 SCN11A NM_001349253.2(SCN11A): c.5251_5260GTGACCAAGG[3] (p.Asp1758_Gln1759insTer) short repeat Uncertain significance rs774589923 3:38888291-38888300 3:38846800-38846809
110 SCN11A NM_001349253.2(SCN11A): c.2945G> A (p.Arg982Gln) single nucleotide variant Uncertain significance rs562379429 3:38927620-38927620 3:38886129-38886129
111 SCN11A NM_001349253.2(SCN11A): c.2318T> C (p.Met773Thr) single nucleotide variant Uncertain significance rs1198350999 3:38938421-38938421 3:38896930-38896930
112 SCN11A NM_001349253.2(SCN11A): c.1685A> G (p.Gln562Arg) single nucleotide variant Uncertain significance rs764962415 3:38945513-38945513 3:38904022-38904022
113 SCN11A NM_001349253.2(SCN11A): c.695C> T (p.Ala232Val) single nucleotide variant Uncertain significance rs1553641382 3:38966923-38966923 3:38925432-38925432
114 SCN11A NM_001349253.2(SCN11A): c.481A> G (p.Ile161Val) single nucleotide variant Uncertain significance rs1398192783 3:38986909-38986909 3:38945418-38945418
115 SCN11A NM_001349253.2(SCN11A): c.470A> T (p.Asn157Ile) single nucleotide variant Uncertain significance rs145680426 3:38986920-38986920 3:38945429-38945429
116 SCN11A NM_001349253.2(SCN11A): c.465C> A (p.Asn155Lys) single nucleotide variant Uncertain significance rs895473949 3:38986925-38986925 3:38945434-38945434
117 SCN11A NM_001349253.2(SCN11A): c.172G> C (p.Ala58Pro) single nucleotide variant Uncertain significance rs1553644519 3:38991682-38991682 3:38950191-38950191
118 SCN11A NM_001349253.2(SCN11A): c.5359A> G (p.Lys1787Glu) single nucleotide variant Uncertain significance rs199522402 3:38888202-38888202 3:38846711-38846711
119 SCN11A NM_001349253.2(SCN11A): c.2759C> T (p.Ala920Val) single nucleotide variant Uncertain significance rs759694252 3:38936100-38936100 3:38894609-38894609
120 SCN11A NM_001349253.2(SCN11A): c.1624C> A (p.Pro542Thr) single nucleotide variant Uncertain significance rs144473860 3:38945574-38945574 3:38904083-38904083
121 SCN11A NM_001349253.2(SCN11A): c.1599G> A (p.Met533Ile) single nucleotide variant Uncertain significance rs769224387 3:38946687-38946687 3:38905196-38905196
122 SCN11A NM_001349253.2(SCN11A): c.1499G> A (p.Arg500Gln) single nucleotide variant Uncertain significance rs373827019 3:38946787-38946787 3:38905296-38905296
123 SCN11A NM_001349253.2(SCN11A): c.1132_1134TTC[2] (p.Phe380del) short repeat Uncertain significance rs771345700 3:38950647-38950649 3:38909156-38909158
124 SCN11A NM_001349253.2(SCN11A): c.938G> A (p.Cys313Tyr) single nucleotide variant Uncertain significance rs1483985149 3:38961447-38961447 3:38919956-38919956
125 SCN11A NM_001349253.2(SCN11A): c.742C> T (p.Arg248Cys) single nucleotide variant Uncertain significance rs764550088 3:38962717-38962717 3:38921226-38921226
126 SCN11A NM_001349253.2(SCN11A): c.712C> T (p.Arg238Cys) single nucleotide variant Uncertain significance rs146942592 3:38966906-38966906 3:38925415-38925415
127 SCN11A NM_001349253.2(SCN11A): c.703G> T (p.Val235Leu) single nucleotide variant Uncertain significance rs770885330 3:38966915-38966915 3:38925424-38925424
128 SCN11A NM_001349253.2(SCN11A): c.2299G> A (p.Gly767Arg) single nucleotide variant Uncertain significance rs9816941 3:38938440-38938440 3:38896949-38896949
129 SCN11A NM_001349253.2(SCN11A): c.4284C> T (p.Gly1428=) single nucleotide variant Uncertain significance rs1415789103 3:38892015-38892015 3:38850524-38850524
130 SCN11A NM_001349253.2(SCN11A): c.3877A> G (p.Ile1293Val) single nucleotide variant Uncertain significance rs761590329 3:38908886-38908886 3:38867395-38867395
131 SCN11A NM_001349253.2(SCN11A): c.2993A> G (p.Asp998Gly) single nucleotide variant Uncertain significance rs373403886 3:38926850-38926850 3:38885359-38885359
132 SCN11A NM_001349253.2(SCN11A): c.1927A> G (p.Ile643Val) single nucleotide variant Uncertain significance rs200800847 3:38941480-38941480 3:38899989-38899989
133 SCN11A NM_001349253.2(SCN11A): c.1043_1045dup (p.Ser348dup) duplication Uncertain significance rs1364760343 3:38951613-38951615 3:38910122-38910124
134 SCN11A NM_001349253.2(SCN11A): c.5312A> G (p.Gln1771Arg) single nucleotide variant Uncertain significance rs773726638 3:38888249-38888249 3:38846758-38846758
135 SCN11A NM_001349253.2(SCN11A): c.5215A> G (p.Ile1739Val) single nucleotide variant Uncertain significance rs759827115 3:38888346-38888346 3:38846855-38846855
136 SCN11A NM_001349253.2(SCN11A): c.4478C> T (p.Ser1493Leu) single nucleotide variant Uncertain significance rs374311646 3:38889083-38889083 3:38847592-38847592
137 SCN11A NM_001349253.2(SCN11A): c.1330T> C (p.Ser444Pro) single nucleotide variant Uncertain significance rs1553639316 3:38949583-38949583 3:38908092-38908092
138 SCN11A NM_001349253.2(SCN11A): c.5125_5126GA[3] (p.Lys1710fs) short repeat Uncertain significance rs1553630088 3:38888433-38888434 3:38846942-38846943
139 SCN11A NM_001349253.2(SCN11A): c.3496-5A> G single nucleotide variant Uncertain significance rs370779865 3:38913204-38913204 3:38871713-38871713
140 SCN11A NM_001349253.2(SCN11A): c.3440G> A (p.Arg1147Gln) single nucleotide variant Uncertain significance rs533830451 3:38913739-38913739 3:38872248-38872248
141 SCN11A NM_001349253.2(SCN11A): c.3064G> T (p.Gly1022Cys) single nucleotide variant Uncertain significance rs144070491 3:38926779-38926779 3:38885288-38885288
142 SCN11A NM_001349253.2(SCN11A): c.2458A> T (p.Asn820Tyr) single nucleotide variant Uncertain significance rs148401428 3:38936401-38936401 3:38894910-38894910
143 SCN11A NM_001349253.2(SCN11A): c.2345_2347CAT[3] (p.Ser785del) short repeat Uncertain significance rs757197374 3:38938383-38938385 3:38896892-38896894
144 SCN11A NM_001349253.2(SCN11A): c.1863A> G (p.Ile621Met) single nucleotide variant Uncertain significance rs370738551 3:38941544-38941544 3:38900053-38900053
145 SCN11A NM_001349253.2(SCN11A): c.1729C> T (p.Pro577Ser) single nucleotide variant Uncertain significance rs1174559334 3:38945469-38945469 3:38903978-38903978
146 SCN11A NM_001349253.2(SCN11A): c.617+1G> A single nucleotide variant Uncertain significance rs754708932 3:38968293-38968293 3:38926802-38926802
147 SCN11A NM_001349253.2(SCN11A): c.494_501dup (p.Gly168fs) duplication Uncertain significance rs780673867 3:38968410-38968417 3:38926919-38926926
148 SCN11A NM_001349253.2(SCN11A): c.2641A> G (p.Ile881Val) single nucleotide variant Uncertain significance rs376275036 3:38936218-38936218 3:38894727-38894727
149 SCN11A NM_001349253.2(SCN11A): c.2576G> A (p.Arg859Lys) single nucleotide variant Uncertain significance rs539550341 3:38936283-38936283 3:38894792-38894792
150 SCN11A NM_001349253.2(SCN11A): c.2513G> A (p.Arg838Gln) single nucleotide variant Uncertain significance rs149681198 3:38936346-38936346 3:38894855-38894855
151 SCN11A NM_001349253.2(SCN11A): c.2254G> A (p.Gly752Arg) single nucleotide variant Uncertain significance rs1173970901 3:38938485-38938485 3:38896994-38896994
152 SCN11A NM_001349253.2(SCN11A): c.1744G> A (p.Ala582Thr) single nucleotide variant Uncertain significance rs141228634 3:38945454-38945454 3:38903963-38903963
153 SCN11A NM_001349253.2(SCN11A): c.3788T> C (p.Ile1263Thr) single nucleotide variant Uncertain significance rs781009540 3:38912207-38912207 3:38870716-38870716
154 SCN11A NM_001349253.2(SCN11A): c.3689A> G (p.Asn1230Ser) single nucleotide variant Uncertain significance rs765543089 3:38913006-38913006 3:38871515-38871515
155 SCN11A NM_001349253.2(SCN11A): c.1588A> G (p.Thr530Ala) single nucleotide variant Uncertain significance rs1553638793 3:38946698-38946698 3:38905207-38905207
156 SCN11A NM_001349253.2(SCN11A): c.5086G> A (p.Gly1696Ser) single nucleotide variant Uncertain significance rs376206288 3:38888475-38888475 3:38846984-38846984
157 SCN11A NM_001349253.2(SCN11A): c.4607C> T (p.Thr1536Ile) single nucleotide variant Uncertain significance rs766122411 3:38888954-38888954 3:38847463-38847463
158 SCN11A NM_001349253.2(SCN11A): c.713-2A> G single nucleotide variant Uncertain significance rs779935698 3:38962748-38962748 3:38921257-38921257
159 SCN11A NM_001349253.2(SCN11A): c.344_346delinsG (p.Phe115_Asn116delinsTer) indel Uncertain significance rs1553644026 3:38988320-38988322 3:38946829-38946831
160 SCN11A NM_001349253.2(SCN11A): c.143C> G (p.Pro48Arg) single nucleotide variant Uncertain significance rs138704917 3:38991711-38991711 3:38950220-38950220
161 SCN11A NM_001349253.2(SCN11A): c.102A> G (p.Gln34=) single nucleotide variant Uncertain significance rs778597965 3:38991752-38991752 3:38950261-38950261
162 SCN11A NM_001349253.2(SCN11A): c.4973G> A (p.Arg1658His) single nucleotide variant Uncertain significance rs141457896 3:38888588-38888588 3:38847097-38847097
163 SCN11A NM_001349253.2(SCN11A): c.4685G> A (p.Arg1562Gln) single nucleotide variant Uncertain significance rs771220857 3:38888876-38888876 3:38847385-38847385
164 SCN11A NM_001349253.2(SCN11A): c.4282G> A (p.Gly1428Ser) single nucleotide variant Uncertain significance rs201336927 3:38892017-38892017 3:38850526-38850526
165 SCN11A NM_001349253.2(SCN11A): c.88C> T (p.Arg30Trp) single nucleotide variant Uncertain significance rs761199291 3:38991766-38991766 3:38950275-38950275
166 SCN11A NM_001349253.2(SCN11A): c.2085C> T (p.Gly695=) single nucleotide variant Uncertain significance rs1033558330 3:38938654-38938654 3:38897163-38897163
167 SCN11A NM_001349253.2(SCN11A): c.2083G> A (p.Gly695Ser) single nucleotide variant Uncertain significance rs553388188 3:38938656-38938656 3:38897165-38897165
168 SCN11A NM_001349253.2(SCN11A): c.1986A> G (p.Gln662=) single nucleotide variant Uncertain significance rs746550786 3:38941421-38941421 3:38899930-38899930
169 SCN11A NM_001349253.2(SCN11A): c.1483del (p.Leu494_Leu495insTer) deletion Uncertain significance rs763788482 3:38946803-38946803 3:38905312-38905312
170 SCN11A NM_001349253.2(SCN11A): c.3840C> A (p.Ser1280Arg) single nucleotide variant Uncertain significance rs144377677 3:38908923-38908923 3:38867432-38867432
171 SCN11A NM_001349253.2(SCN11A): c.2744G> T (p.Trp915Leu) single nucleotide variant Uncertain significance rs1553636827 3:38936115-38936115 3:38894624-38894624
172 SCN11A NM_001349253.2(SCN11A): c.1591A> G (p.Ile531Val) single nucleotide variant Uncertain significance rs1553638792 3:38946695-38946695 3:38905204-38905204
173 SCN11A NM_001349253.2(SCN11A): c.1220A> G (p.Asn407Ser) single nucleotide variant Uncertain significance rs375513048 3:38950567-38950567 3:38909076-38909076
174 SCN11A NM_001349253.2(SCN11A): c.891T> C (p.Tyr297=) single nucleotide variant Uncertain significance rs1553640799 3:38962568-38962568 3:38921077-38921077
175 SCN11A NM_001349253.2(SCN11A): c.331A> G (p.Ile111Val) single nucleotide variant Uncertain significance rs1303641495 3:38988335-38988335 3:38946844-38946844
176 SCN11A NM_001349253.2(SCN11A): c.3014G> A (p.Trp1005Ter) single nucleotide variant Uncertain significance rs41285132 3:38926829-38926829 3:38885338-38885338
177 SCN11A NM_001349253.2(SCN11A): c.1365A> C (p.Pro455=) single nucleotide variant Likely benign rs768322031 3:38949548-38949548 3:38908057-38908057
178 SCN11A NM_001349253.2(SCN11A): c.2662A> G (p.Lys888Glu) single nucleotide variant Likely benign rs763133649 3:38936197-38936197 3:38894706-38894706
179 SCN11A NM_001349253.2(SCN11A): c.2082C> T (p.Ile694=) single nucleotide variant Likely benign rs369835845 3:38938657-38938657 3:38897166-38897166
180 SCN11A NM_001349253.2(SCN11A): c.4077G> A (p.Val1359=) single nucleotide variant Likely benign rs147459127 3:38892222-38892222 3:38850731-38850731
181 SCN11A NM_001349253.2(SCN11A): c.4584C> T (p.Ile1528=) single nucleotide variant Likely benign rs753282934 3:38888977-38888977 3:38847486-38847486
182 SCN11A NM_001349253.2(SCN11A): c.3865G> A (p.Val1289Ile) single nucleotide variant Likely benign rs536925812 3:38908898-38908898 3:38867407-38867407
183 SCN11A NM_001349253.2(SCN11A): c.2339C> T (p.Ala780Val) single nucleotide variant Likely benign rs113359492 3:38938400-38938400 3:38896909-38896909
184 SCN11A NM_001349253.2(SCN11A): c.453T> C (p.Ala151=) single nucleotide variant Likely benign rs773933528 3:38986937-38986937 3:38945446-38945446
185 SCN11A NM_001349253.2(SCN11A): c.2760G> A (p.Ala920=) single nucleotide variant Likely benign rs764717266 3:38936099-38936099 3:38894608-38894608
186 SCN11A NM_001349253.2(SCN11A): c.1683C> A (p.Pro561=) single nucleotide variant Likely benign rs999052924 3:38945515-38945515 3:38904024-38904024
187 SCN11A NM_001349253.2(SCN11A): c.1605A> G (p.Glu535=) single nucleotide variant Likely benign rs567731857 3:38945593-38945593 3:38904102-38904102
188 SCN11A NM_001349253.2(SCN11A): c.95C> T (p.Ala32Val) single nucleotide variant Likely benign rs150835546 3:38991759-38991759 3:38950268-38950268
189 SCN11A NM_001349253.2(SCN11A): c.4825A> G (p.Thr1609Ala) single nucleotide variant Likely benign rs755516018 3:38888736-38888736 3:38847245-38847245
190 SCN11A NM_001349253.2(SCN11A): c.4479G> T (p.Ser1493=) single nucleotide variant Likely benign rs201757165 3:38889082-38889082 3:38847591-38847591
191 SCN11A NM_001349253.2(SCN11A): c.1097A> G (p.Gln366Arg) single nucleotide variant Likely benign rs112707835 3:38951561-38951561 3:38910070-38910070
192 SCN11A NM_001349253.2(SCN11A): c.804C> T (p.Ala268=) single nucleotide variant Likely benign rs368150786 3:38962655-38962655 3:38921164-38921164
193 SCN11A NM_001349253.2(SCN11A): c.741A> G (p.Leu247=) single nucleotide variant Likely benign rs756839938 3:38962718-38962718 3:38921227-38921227
194 SCN11A NM_001349253.2(SCN11A): c.4308C> T (p.Val1436=) single nucleotide variant Likely benign rs140270974 3:38891991-38891991 3:38850500-38850500
195 SCN11A NM_001349253.2(SCN11A): c.4064G> T (p.Cys1355Phe) single nucleotide variant Likely benign rs555362768 3:38892235-38892235 3:38850744-38850744
196 SCN11A NM_001349253.2(SCN11A): c.1566A> G (p.Ala522=) single nucleotide variant Likely benign rs189347290 3:38946720-38946720 3:38905229-38905229
197 SCN11A NM_001349253.2(SCN11A): c.702A> C (p.Ser234=) single nucleotide variant Likely benign rs774523135 3:38966916-38966916 3:38925425-38925425
198 SCN11A NM_001349253.2(SCN11A): c.2881G> T (p.Val961Phe) single nucleotide variant Likely benign rs367689714 3:38927684-38927684 3:38886193-38886193
199 SCN11A NM_001349253.2(SCN11A): c.3506A> G (p.Asn1169Ser) single nucleotide variant Likely benign rs143552154 3:38913189-38913189 3:38871698-38871698
200 SCN11A NM_001349253.2(SCN11A): c.4272C> T (p.Tyr1424=) single nucleotide variant Likely benign rs146409038 3:38892027-38892027 3:38850536-38850536
201 SCN11A NM_001349253.2(SCN11A): c.1893C> T (p.Leu631=) single nucleotide variant Likely benign rs531410199 3:38941514-38941514 3:38900023-38900023
202 SCN11A NM_001349253.2(SCN11A): c.4420C> T (p.Leu1474=) single nucleotide variant Likely benign rs138566005 3:38889141-38889141 3:38847650-38847650
203 SCN11A NM_001349253.2(SCN11A): c.2433C> G (p.Leu811=) single nucleotide variant Likely benign rs377615513 3:38936426-38936426 3:38894935-38894935
204 SCN11A NM_001349253.2(SCN11A): c.4405C> A (p.Arg1469=) single nucleotide variant Likely benign rs144285862 3:38889156-38889156 3:38847665-38847665
205 SCN11A NM_001349253.2(SCN11A): c.2298C> T (p.Cys766=) single nucleotide variant Likely benign rs202104116 3:38938441-38938441 3:38896950-38896950
206 SCN11A NM_001349253.2(SCN11A): c.2871G> A (p.Thr957=) single nucleotide variant Likely benign rs766452376 3:38927694-38927694 3:38886203-38886203
207 SCN11A NM_001349253.2(SCN11A): c.5229C> G (p.Ala1743=) single nucleotide variant Likely benign rs763503543 3:38888332-38888332 3:38846841-38846841
208 SCN11A NM_001349253.2(SCN11A): c.30T> C (p.Phe10=) single nucleotide variant Likely benign rs139252438 3:38991824-38991824 3:38950333-38950333
209 SCN11A NM_001349253.2(SCN11A): c.2213C> T (p.Pro738Leu) single nucleotide variant Likely benign rs140995438 3:38938526-38938526 3:38897035-38897035
210 SCN11A NM_001349253.2(SCN11A): c.4977C> T (p.Val1659=) single nucleotide variant Likely benign rs150087925 3:38888584-38888584 3:38847093-38847093
211 SCN11A NM_001349253.2(SCN11A): c.5207G> T (p.Gly1736Val) single nucleotide variant Likely benign rs143852849 3:38888354-38888354 3:38846863-38846863
212 SCN11A NM_001349253.2(SCN11A): c.5037C> T (p.Arg1679=) single nucleotide variant Benign rs61752574 3:38888524-38888524 3:38847033-38847033
213 SCN11A NM_001349253.2(SCN11A): c.4230G> A (p.Thr1410=) single nucleotide variant Benign rs78953918 3:38892069-38892069 3:38850578-38850578
214 SCN11A NM_001349253.2(SCN11A): c.5334G> A (p.Leu1778=) single nucleotide variant Benign rs4640498 3:38888227-38888227 3:38846736-38846736
215 SCN11A NM_001349253.2(SCN11A): c.1575T> C (p.Ala525=) single nucleotide variant Benign rs201554884 3:38946711-38946711 3:38905220-38905220
216 SCN11A NM_001349253.2(SCN11A): c.1062G> A (p.Arg354=) single nucleotide variant Benign rs73828709 3:38951596-38951596 3:38910105-38910105
217 SCN11A NM_001349253.2(SCN11A): c.5169C> T (p.Pro1723=) single nucleotide variant Benign rs116714494 3:38888392-38888392 3:38846901-38846901
218 SCN11A NM_001349253.2(SCN11A): c.2646C> T (p.Pro882=) single nucleotide variant Benign rs141598286 3:38936213-38936213 3:38894722-38894722
219 SCN11A NM_001349253.2(SCN11A): c.1442G> A (p.Gly481Glu) single nucleotide variant Benign rs13059805 3:38949471-38949471 3:38907980-38907980
220 SCN11A NM_001349253.2(SCN11A): c.3819A> G (p.Glu1273=) single nucleotide variant Benign rs148945365 3:38908944-38908944 3:38867453-38867453
221 SCN11A NM_001349253.2(SCN11A): c.3495+8C> G single nucleotide variant Benign rs373980473 3:38913676-38913676 3:38872185-38872185
222 SCN11A NM_001349253.2(SCN11A): c.5061C> T (p.Phe1687=) single nucleotide variant Benign rs75856434 3:38888500-38888500 3:38847009-38847009
223 SCN11A NM_001349253.2(SCN11A): c.4950T> C (p.Ala1650=) single nucleotide variant Benign rs146271174 3:38888611-38888611 3:38847120-38847120
224 SCN11A NM_001349253.2(SCN11A): c.3132C> G (p.Asn1044Lys) single nucleotide variant Benign rs35693485 3:38924811-38924811 3:38883320-38883320
225 SCN11A NM_001349253.2(SCN11A): c.4683G> C (p.Leu1561=) single nucleotide variant Benign rs41285131 3:38888878-38888878 3:38847387-38847387
226 SCN11A NM_001349253.1(SCN11A): c.268-10dup duplication Benign rs552650164 3:38988408-38988408 3:38946917-38946917
227 SCN11A NM_001349253.2(SCN11A): c.4826C> T (p.Thr1609Ile) single nucleotide variant Benign rs72869687 3:38888735-38888735 3:38847244-38847244
228 SCN11A NM_001349253.2(SCN11A): c.2201A> G (p.Lys734Arg) single nucleotide variant Benign rs200211620 3:38938538-38938538 3:38897047-38897047
229 SCN11A NM_001349253.2(SCN11A): c.1941T> A (p.Ile647=) single nucleotide variant Benign rs6809179 3:38941466-38941466 3:38899975-38899975
230 SCN11A NM_001349253.2(SCN11A): c.1843-10C> A single nucleotide variant Benign rs200533903 3:38941574-38941574 3:38900083-38900083
231 SCN11A NM_001349253.2(SCN11A): c.760G> T (p.Val254Phe) single nucleotide variant Benign rs574777861 3:38962699-38962699 3:38921208-38921208
232 SCN11A NM_001349253.2(SCN11A): c.757C> T (p.Leu253=) single nucleotide variant Benign rs36084747 3:38962702-38962702 3:38921211-38921211
233 SCN11A NM_001349253.2(SCN11A): c.201C> T (p.Gly67=) single nucleotide variant Benign rs148264228 3:38991653-38991653 3:38950162-38950162
234 SCN11A NM_001349253.2(SCN11A): c.1632C> A (p.Leu544=) single nucleotide variant Benign rs149552611 3:38945566-38945566 3:38904075-38904075
235 SCN11A NM_001349253.2(SCN11A): c.48C> T (p.Phe16=) single nucleotide variant Benign rs201111033 3:38991806-38991806 3:38950315-38950315
236 SCN11A NM_001349253.2(SCN11A): c.1109G> A (p.Arg370His) single nucleotide variant Benign rs138034948 3:38950678-38950678 3:38909187-38909187

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

74 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 SCN11A p.Leu811Pro VAR_070921 rs483352920
2 SCN11A p.Val1184Ala VAR_075250

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory and Autonomic, Type Vii.

Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

GO Terms for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

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