HSAN7
MCID: NRP031
MIFTS: 46

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, 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 56 52 29 6 71
Hsan7 56 12 52 58 73
Hereditary Sensory and Autonomic Neuropathy Type Vii 12 52 58 73
Hereditary Sensory and Autonomic Neuropathy Type 7 12 52 58 15
Hereditary Sensory and Autonomic Neuropathy with Hyperhidrosis and Gastrointestinal Dysfunction 52 58
Congenital Insensitivity to Pain with Hyperhidrosis and Gastrointestinal Dysfunction 52 58
Hsan with Hyperhidrosis and Gastrointestinal Dysfunction 52 58
Cip with Hyperhidrosis and Gastrointestinal Dysfunction 52 58
Hsan Vii 56 73
Insensitivity to Pain, Congenital, with Gastrointestinal Dysfunction and Hyperhidrosis 56
Congenital Insensitivity to Pain with Gastrointestinal Dysfunction and Hyperhidrosis 73
Neuropathy, Sensory and Autonomic, Hereditary, Type Vii 39
Neuropathy, Hereditary Sensory and Autonomic, 7 73

Characteristics:

Orphanet epidemiological data:

58
hereditary sensory and autonomic neuropathy type 7
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
neuropathy, hereditary sensory and autonomic, type vii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070149
OMIM 56 615548
OMIM Phenotypic Series 56 PS162400
MeSH 43 D009477
ICD10 32 G60.8
ICD10 via Orphanet 33 G60.8
Orphanet 58 ORPHA391397
UMLS 71 C3809882

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

NIH Rare Diseases : 52 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), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. Affiliated tissues include bone, eye and heart, and related phenotypes are hyperhidrosis and constipation

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 : 73 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

Diseases in the Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy family:

Neuropathy, Hereditary Sensory and Autonomic, Type Ia Neuropathy, Hereditary Sensory and Autonomic, Type Iia
Neuropathy, Hereditary Sensory and Autonomic, Type Iii Neuropathy, Hereditary Sensory and Autonomic, Type V
Neuropathy, Hereditary Sensory and Autonomic, Type Iib Neuropathy, Hereditary Sensory and Autonomic, Type Ic
Neuropathy, Hereditary Sensory and Autonomic, Type Vi Neuropathy, Hereditary Sensory and Autonomic, Type Vii
Neuropathy, Hereditary Sensory and Autonomic, Type Viii Hereditary Sensory and Autonomic Neuropathy Type 1
Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy

Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 48, show less)
# Related Disease Score Top Affiliating Genes
1 hereditary sensory neuropathy 10.2
2 anhidrosis 10.2
3 autonomic neuropathy 10.2
4 neuropathy 10.2
5 sodium channelopathy-related small fiber neuropathy 10.1 SCN11A SCN10A
6 indifference to pain, congenital, autosomal recessive 10.1 SCN11A SCN10A
7 paroxysmal extreme pain disorder 10.1 SCN11A SCN10A
8 erythermalgia, primary 10.1 SCN11A SCN10A
9 febrile seizures 10.0 SCN2A SCN1A
10 genetic epilepsy with febrile seizures plus 9.9 SCN2A SCN1A
11 malignant migrating partial seizures of infancy 9.9 SCN2A SCN1A
12 partial motor epilepsy 9.9 SCN2A SCN1A
13 early onset absence epilepsy 9.9 SCN2A SCN1A
14 landau-kleffner syndrome 9.8 SCN2A SCN1A
15 epilepsy with generalized tonic-clonic seizures 9.8 SCN2A SCN1A
16 benign familial neonatal epilepsy 9.8 SCN2A SCN1A
17 seizure disorder 9.8 SCN2A SCN1A
18 epileptic encephalopathy, early infantile, 9 9.8 SCN2A SCN1A
19 adolescence-adult electroclinical syndrome 9.8 SCN2A SCN1A
20 infancy electroclinical syndrome 9.8 SCN2A SCN1A
21 childhood electroclinical syndrome 9.8 SCN2A SCN1A
22 benign neonatal seizures 9.7 SCN2A SCN1A
23 progressive familial heart block, type ia 9.6 SCN3A SCN1A
24 autosomal dominant nocturnal frontal lobe epilepsy 9.6 SCN2A SCN1A
25 episodic ataxia 9.5 SCN2A SCN1A
26 trigeminal nerve disease 9.5 SCN3A SCN11A SCN10A
27 trigeminal neuralgia 9.5 SCN3A SCN11A SCN10A
28 polymicrogyria 9.5 SCN3A SCN1A
29 cardiomyopathy, dilated, 1e 9.4 SCN3A SCN1A
30 epilepsy, myoclonic juvenile 9.4 SCN2A SCN1A
31 low-grade astrocytoma 9.3 SCN3A SCN2A SCN1A
32 neonatal period electroclinical syndrome 9.3 SCN3A SCN2A SCN1A
33 electroclinical syndrome 9.3 SCN3A SCN2A SCN1A
34 benign familial infantile epilepsy 9.3 SCN3A SCN2A SCN1A
35 lennox-gastaut syndrome 9.3 SCN3A SCN2A SCN1A
36 early myoclonic encephalopathy 9.3 SCN3A SCN2A SCN1A
37 childhood absence epilepsy 9.3 SCN3A SCN2A SCN1A
38 focal epilepsy 9.3 SCN3A SCN2A SCN1A
39 erythromelalgia 9.1 SCN3A SCN1A SCN11A SCN10A
40 paine syndrome 9.1 SCN3A SCN1A SCN11A SCN10A
41 somatoform disorder 9.1 SCN3A SCN1A SCN11A SCN10A
42 epileptic encephalopathy, early infantile, 6 9.0 SCN3A SCN2A SCN1A SCN11A
43 epilepsy, idiopathic generalized 9.0 SCN3A SCN2A SCN1A SCN11A
44 generalized epilepsy with febrile seizures plus 8.7 SCN3A SCN2A SCN1A SCN11A SCN10A
45 west syndrome 8.7 SCN3A SCN2A SCN1A SCN11A SCN10A
46 migraine with or without aura 1 8.7 SCN3A SCN2A SCN1A SCN11A SCN10A
47 brugada syndrome 8.7 SCN3A SCN2A SCN1A SCN11A SCN10A
48 early infantile epileptic encephalopathy 8.6 SCN3A SCN2A SCN1A SCN11A KCNH5

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii:



Diseases related to 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:

31 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 31 HP:0000975
2 constipation 31 HP:0002019
3 muscle weakness 31 HP:0001324
4 self-injurious behavior 31 HP:0100716
5 pruritus 31 HP:0000989
6 motor delay 31 HP:0001270
7 diarrhea 31 HP:0002014
8 abnormal autonomic nervous system physiology 31 HP:0012332
9 pain insensitivity 31 HP:0007021

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 KCNH5 PEPD SCN10A SCN11A SCN1A SCN2A

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:

40
Bone, Eye, Heart, Skin

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. 56 6
30395542 2018
2
The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. 56 6
25118027 2015
3
A de novo gain-of-function mutation in SCN11A causes loss of pain perception. 56 6
24036948 2013
4
Congenital Insensitivity to Pain Overview 6
29419974 2018
5
Anesthetic Management of a Patient With De Novo Hereditary Sensory and Autonomic Neuropathy, Type VII: A Case Report. 61
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 186, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN11A NM_001349253.2(SCN11A):c.2432T>C (p.Leu811Pro)SNV Pathogenic 89011 rs483352920 3:38936427-38936427 3:38894936-38894936
2 SCN11A NM_001349253.2(SCN11A):c.1187T>C (p.Leu396Pro)SNV Pathogenic 426113 rs1085307142 3:38950600-38950600 3:38909109-38909109
3 SCN11A NM_001349253.2(SCN11A):c.3904C>T (p.Leu1302Phe)SNV Pathogenic 504488 rs1553633131 3:38908859-38908859 3:38867368-38867368
4 SCN11A NM_001349253.2(SCN11A):c.1986A>G (p.Gln662=)SNV Conflicting interpretations of pathogenicity 541551 rs746550786 3:38941421-38941421 3:38899930-38899930
5 SCN11A NM_001349253.2(SCN11A):c.1483del (p.Leu494_Leu495insTer)deletion Uncertain significance 541557 rs763788482 3:38946803-38946803 3:38905312-38905312
6 SCN11A NM_001349253.2(SCN11A):c.713-2A>GSNV Uncertain significance 541580 rs779935698 3:38962748-38962748 3:38921257-38921257
7 SCN11A NM_001349253.2(SCN11A):c.344_346delinsG (p.Phe115_Asn116delinsTer)indel Uncertain significance 541576 rs1553644026 3:38988320-38988322 3:38946829-38946831
8 SCN11A NM_001349253.2(SCN11A):c.102A>G (p.Gln34=)SNV Uncertain significance 541556 rs778597965 3:38991752-38991752 3:38950261-38950261
9 SCN11A NM_001349253.2(SCN11A):c.4973G>A (p.Arg1658His)SNV Uncertain significance 541569 rs141457896 3:38888588-38888588 3:38847097-38847097
10 SCN11A NM_001349253.2(SCN11A):c.4685G>A (p.Arg1562Gln)SNV Uncertain significance 541549 rs771220857 3:38888876-38888876 3:38847385-38847385
11 SCN11A NM_001349253.2(SCN11A):c.4282G>A (p.Gly1428Ser)SNV Uncertain significance 541573 rs201336927 3:38892017-38892017 3:38850526-38850526
12 SCN11A NM_001349253.2(SCN11A):c.3840C>A (p.Ser1280Arg)SNV Uncertain significance 541565 rs144377677 3:38908923-38908923 3:38867432-38867432
13 SCN11A NM_001349253.2(SCN11A):c.2744G>T (p.Trp915Leu)SNV Uncertain significance 541566 rs1553636827 3:38936115-38936115 3:38894624-38894624
14 SCN11A NM_001349253.2(SCN11A):c.4607C>T (p.Thr1536Ile)SNV Uncertain significance 541560 rs766122411 3:38888954-38888954 3:38847463-38847463
15 SCN11A NM_001349253.2(SCN11A):c.2085C>T (p.Gly695=)SNV Uncertain significance 541561 rs1033558330 3:38938654-38938654 3:38897163-38897163
16 SCN11A NM_001349253.2(SCN11A):c.2083G>A (p.Gly695Ser)SNV Uncertain significance 541579 rs553388188 3:38938656-38938656 3:38897165-38897165
17 SCN11A NM_001349253.2(SCN11A):c.1588A>G (p.Thr530Ala)SNV Uncertain significance 541585 rs1553638793 3:38946698-38946698 3:38905207-38905207
18 SCN11A NM_001349253.2(SCN11A):c.88C>T (p.Arg30Trp)SNV Uncertain significance 541547 rs761199291 3:38991766-38991766 3:38950275-38950275
19 SCN11A NM_001349253.2(SCN11A):c.5312A>G (p.Gln1771Arg)SNV Uncertain significance 541558 rs773726638 3:38888249-38888249 3:38846758-38846758
20 SCN11A NM_001349253.2(SCN11A):c.5215A>G (p.Ile1739Val)SNV Uncertain significance 541583 rs759827115 3:38888346-38888346 3:38846855-38846855
21 SCN11A NM_001349253.2(SCN11A):c.4478C>T (p.Ser1493Leu)SNV Uncertain significance 541553 rs374311646 3:38889083-38889083 3:38847592-38847592
22 SCN11A NM_001349253.2(SCN11A):c.1927A>G (p.Ile643Val)SNV Uncertain significance 474698 rs200800847 3:38941480-38941480 3:38899989-38899989
23 SCN11A NM_001349253.2(SCN11A):c.1043_1045dup (p.Ser348dup)duplication Uncertain significance 474684 rs1364760343 3:38951612-38951613 3:38910121-38910122
24 SCN11A NM_001349253.2(SCN11A):c.617+1G>ASNV Uncertain significance 474750 rs754708932 3:38968293-38968293 3:38926802-38926802
25 SCN11A NM_001349253.2(SCN11A):c.494_501dup (p.Gly168fs)duplication Uncertain significance 474737 rs780673867 3:38968409-38968410 3:38926918-38926919
26 SCN11A NM_001349253.2(SCN11A):c.3014G>A (p.Trp1005Ter)SNV Uncertain significance 488927 rs41285132 3:38926829-38926829 3:38885338-38885338
27 SCN11A NM_001349253.2(SCN11A):c.180G>T (p.Arg60Ser)SNV Uncertain significance 450384 rs149547996 3:38991674-38991674 3:38950183-38950183
28 SCN11A NM_001349253.2(SCN11A):c.1730C>T (p.Pro577Leu)SNV Uncertain significance 425292 rs374524879 3:38945468-38945468 3:38903977-38903977
29 SCN11A NM_001349253.2(SCN11A):c.4284C>T (p.Gly1428=)SNV Uncertain significance 474726 rs1415789103 3:38892015-38892015 3:38850524-38850524
30 SCN11A NM_001349253.2(SCN11A):c.3877A>G (p.Ile1293Val)SNV Uncertain significance 474724 rs761590329 3:38908886-38908886 3:38867395-38867395
31 SCN11A NM_001349253.2(SCN11A):c.2993A>G (p.Asp998Gly)SNV Uncertain significance 474715 rs373403886 3:38926850-38926850 3:38885359-38885359
32 SCN11A NM_001349253.2(SCN11A):c.3496-5A>GSNV Uncertain significance 541567 rs370779865 3:38913204-38913204 3:38871713-38871713
33 SCN11A NM_001349253.2(SCN11A):c.3440G>A (p.Arg1147Gln)SNV Uncertain significance 541571 rs533830451 3:38913739-38913739 3:38872248-38872248
34 SCN11A NM_001349253.2(SCN11A):c.3064G>T (p.Gly1022Cys)SNV Uncertain significance 541564 rs144070491 3:38926779-38926779 3:38885288-38885288
35 SCN11A NM_001349253.2(SCN11A):c.2458A>T (p.Asn820Tyr)SNV Uncertain significance 541568 rs148401428 3:38936401-38936401 3:38894910-38894910
36 SCN11A NM_001349253.2(SCN11A):c.2345_2347CAT[3] (p.Ser785del)short repeat Uncertain significance 541572 rs757197374 3:38938383-38938385 3:38896892-38896894
37 SCN11A NM_001349253.2(SCN11A):c.1863A>G (p.Ile621Met)SNV Uncertain significance 541578 rs370738551 3:38941544-38941544 3:38900053-38900053
38 SCN11A NM_001349253.2(SCN11A):c.1729C>T (p.Pro577Ser)SNV Uncertain significance 541559 rs1174559334 3:38945469-38945469 3:38903978-38903978
39 SCN11A NM_001349253.2(SCN11A):c.1330T>C (p.Ser444Pro)SNV Uncertain significance 541563 rs1553639316 3:38949583-38949583 3:38908092-38908092
40 SCN11A NM_001349253.2(SCN11A):c.5125_5126GA[3] (p.Lys1710fs)short repeat Uncertain significance 541554 rs1553630088 3:38888432-38888433 3:38846941-38846942
41 SCN11A NM_001349253.2(SCN11A):c.3788T>C (p.Ile1263Thr)SNV Uncertain significance 541550 rs781009540 3:38912207-38912207 3:38870716-38870716
42 SCN11A NM_001349253.2(SCN11A):c.3689A>G (p.Asn1230Ser)SNV Uncertain significance 541552 rs765543089 3:38913006-38913006 3:38871515-38871515
43 SCN11A NM_001349253.2(SCN11A):c.2641A>G (p.Ile881Val)SNV Uncertain significance 541562 rs376275036 3:38936218-38936218 3:38894727-38894727
44 SCN11A NM_001349253.2(SCN11A):c.2576G>A (p.Arg859Lys)SNV Uncertain significance 541548 rs539550341 3:38936283-38936283 3:38894792-38894792
45 SCN11A NM_001349253.2(SCN11A):c.2513G>A (p.Arg838Gln)SNV Uncertain significance 541570 rs149681198 3:38936346-38936346 3:38894855-38894855
46 SCN11A NM_001349253.2(SCN11A):c.2254G>A (p.Gly752Arg)SNV Uncertain significance 541586 rs1173970901 3:38938485-38938485 3:38896994-38896994
47 SCN11A NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr)SNV Uncertain significance 541582 rs141228634 3:38945454-38945454 3:38903963-38903963
48 SCN11A NM_001349253.2(SCN11A):c.4604A>G (p.Lys1535Arg)SNV Uncertain significance 474730 rs1553630322 3:38888957-38888957 3:38847466-38847466
49 SCN11A NM_001349253.2(SCN11A):c.3724A>G (p.Asn1242Asp)SNV Uncertain significance 474722 rs769151002 3:38912971-38912971 3:38871480-38871480
50 SCN11A NM_001349253.2(SCN11A):c.3042A>T (p.Gln1014His)SNV Uncertain significance 474716 rs1553635601 3:38926801-38926801 3:38885310-38885310
51 SCN11A NM_001349253.2(SCN11A):c.2693G>A (p.Gly898Asp)SNV Uncertain significance 474710 rs1301732976 3:38936166-38936166 3:38894675-38894675
52 SCN11A NM_001349253.2(SCN11A):c.2530T>C (p.Cys844Arg)SNV Uncertain significance 474707 rs201598026 3:38936329-38936329 3:38894838-38894838
53 SCN11A NM_001349253.2(SCN11A):c.2384C>T (p.Thr795Met)SNV Uncertain significance 474706 rs767279633 3:38938355-38938355 3:38896864-38896864
54 SCN11A NM_001349253.2(SCN11A):c.1904A>G (p.His635Arg)SNV Uncertain significance 474697 rs1434002501 3:38941503-38941503 3:38900012-38900012
55 SCN11A NM_001349253.2(SCN11A):c.5251_5260GTGACCAAGG[3] (p.Asp1758_Gln1759insTer)short repeat Uncertain significance 474747 rs774589923 3:38888290-38888291 3:38846799-38846800
56 SCN11A NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu)SNV Uncertain significance 474743 rs201107889 3:38888494-38888494 3:38847003-38847003
57 SCN11A NM_001349253.2(SCN11A):c.5063C>T (p.Ala1688Val)SNV Uncertain significance 474742 rs79184444 3:38888498-38888498 3:38847007-38847007
58 SCN11A NM_001349253.2(SCN11A):c.4879T>C (p.Tyr1627His)SNV Uncertain significance 474736 rs114854233 3:38888682-38888682 3:38847191-38847191
59 SCN11A NM_001349253.2(SCN11A):c.4433G>A (p.Arg1478Gln)SNV Uncertain significance 474729 rs758597298 3:38889128-38889128 3:38847637-38847637
60 SCN11A NM_001349253.2(SCN11A):c.2945G>A (p.Arg982Gln)SNV Uncertain significance 474714 rs562379429 3:38927620-38927620 3:38886129-38886129
61 SCN11A NM_001349253.2(SCN11A):c.2318T>C (p.Met773Thr)SNV Uncertain significance 474705 rs1198350999 3:38938421-38938421 3:38896930-38896930
62 SCN11A NM_001349253.2(SCN11A):c.1685A>G (p.Gln562Arg)SNV Uncertain significance 474693 rs764962415 3:38945513-38945513 3:38904022-38904022
63 SCN11A NM_001349253.2(SCN11A):c.695C>T (p.Ala232Val)SNV Uncertain significance 474751 rs1553641382 3:38966923-38966923 3:38925432-38925432
64 SCN11A NM_001349253.2(SCN11A):c.481A>G (p.Ile161Val)SNV Uncertain significance 474734 rs1398192783 3:38986909-38986909 3:38945418-38945418
65 SCN11A NM_001349253.2(SCN11A):c.470A>T (p.Asn157Ile)SNV Uncertain significance 474733 rs145680426 3:38986920-38986920 3:38945429-38945429
66 SCN11A NM_001349253.2(SCN11A):c.465C>A (p.Asn155Lys)SNV Uncertain significance 474731 rs895473949 3:38986925-38986925 3:38945434-38945434
67 SCN11A NM_001349253.2(SCN11A):c.172G>C (p.Ala58Pro)SNV Uncertain significance 474694 rs1553644519 3:38991682-38991682 3:38950191-38950191
68 SCN11A NM_001349253.2(SCN11A):c.5359A>G (p.Lys1787Glu)SNV Uncertain significance 474749 rs199522402 3:38888202-38888202 3:38846711-38846711
69 SCN11A NM_001349253.2(SCN11A):c.2759C>T (p.Ala920Val)SNV Uncertain significance 474711 rs759694252 3:38936100-38936100 3:38894609-38894609
70 SCN11A NM_001349253.2(SCN11A):c.2299G>A (p.Gly767Arg)SNV Uncertain significance 474704 rs9816941 3:38938440-38938440 3:38896949-38896949
71 SCN11A NM_001349253.2(SCN11A):c.1624C>A (p.Pro542Thr)SNV Uncertain significance 474692 rs144473860 3:38945574-38945574 3:38904083-38904083
72 SCN11A NM_001349253.2(SCN11A):c.1599G>A (p.Met533Ile)SNV Uncertain significance 474691 rs769224387 3:38946687-38946687 3:38905196-38905196
73 SCN11A NM_001349253.2(SCN11A):c.1499G>A (p.Arg500Gln)SNV Uncertain significance 474688 rs373827019 3:38946787-38946787 3:38905296-38905296
74 SCN11A NM_001349253.2(SCN11A):c.1132_1134TTC[2] (p.Phe380del)short repeat Uncertain significance 474686 rs771345700 3:38950647-38950649 3:38909156-38909158
75 SCN11A NM_001349253.2(SCN11A):c.938G>A (p.Cys313Tyr)SNV Uncertain significance 474758 rs1483985149 3:38961447-38961447 3:38919956-38919956
76 SCN11A NM_001349253.2(SCN11A):c.742C>T (p.Arg248Cys)SNV Uncertain significance 474755 rs764550088 3:38962717-38962717 3:38921226-38921226
77 SCN11A NM_001349253.2(SCN11A):c.712C>T (p.Arg238Cys)SNV Uncertain significance 474754 rs146942592 3:38966906-38966906 3:38925415-38925415
78 SCN11A NM_001349253.2(SCN11A):c.703G>T (p.Val235Leu)SNV Uncertain significance 474753 rs770885330 3:38966915-38966915 3:38925424-38925424
79 SCN11A NM_001349253.2(SCN11A):c.1591A>G (p.Ile531Val)SNV Uncertain significance 541584 rs1553638792 3:38946695-38946695 3:38905204-38905204
80 SCN11A NM_001349253.2(SCN11A):c.1220A>G (p.Asn407Ser)SNV Uncertain significance 541555 rs375513048 3:38950567-38950567 3:38909076-38909076
81 SCN11A NM_001349253.2(SCN11A):c.891T>C (p.Tyr297=)SNV Uncertain significance 541575 rs1553640799 3:38962568-38962568 3:38921077-38921077
82 SCN11A NM_001349253.2(SCN11A):c.331A>G (p.Ile111Val)SNV Uncertain significance 541577 rs1303641495 3:38988335-38988335 3:38946844-38946844
83 SCN11A NM_001349253.2(SCN11A):c.5135T>C (p.Met1712Thr)SNV Uncertain significance 581267 rs1559482153 3:38888426-38888426 3:38846935-38846935
84 SCN11A NM_001349253.2(SCN11A):c.5083G>A (p.Gly1695Ser)SNV Uncertain significance 567946 rs1413143057 3:38888478-38888478 3:38846987-38846987
85 SCN11A NM_001349253.2(SCN11A):c.5071G>A (p.Ala1691Thr)SNV Uncertain significance 582919 rs754911340 3:38888490-38888490 3:38846999-38846999
86 SCN11A NM_001349253.2(SCN11A):c.4178C>A (p.Ala1393Asp)SNV Uncertain significance 580097 rs1559485324 3:38892121-38892121 3:38850630-38850630
87 SCN11A NM_001349253.2(SCN11A):c.2654T>C (p.Met885Thr)SNV Uncertain significance 570264 rs1559513522 3:38936205-38936205 3:38894714-38894714
88 SCN11A NM_001349253.2(SCN11A):c.2288G>A (p.Arg763His)SNV Uncertain significance 567053 rs372078622 3:38938451-38938451 3:38896960-38896960
89 SCN11A NM_001349253.2(SCN11A):c.1654T>A (p.Ser552Thr)SNV Uncertain significance 576313 rs1559521113 3:38945544-38945544 3:38904053-38904053
90 SCN11A NM_001349253.2(SCN11A):c.429C>A (p.Cys143Ter)SNV Uncertain significance 569593 rs1429601834 3:38986961-38986961 3:38945470-38945470
91 SCN11A NM_001349253.2(SCN11A):c.3620G>T (p.Cys1207Phe)SNV Uncertain significance 582465 rs904970580 3:38913075-38913075 3:38871584-38871584
92 SCN11A NM_001349253.2(SCN11A):c.3571G>A (p.Val1191Ile)SNV Uncertain significance 578351 rs199670122 3:38913124-38913124 3:38871633-38871633
93 SCN11A NM_001349253.2(SCN11A):c.1971G>C (p.Met657Ile)SNV Uncertain significance 577498 rs1559518186 3:38941436-38941436 3:38899945-38899945
94 SCN11A NM_001349253.2(SCN11A):c.1560G>T (p.Gln520His)SNV Uncertain significance 572076 rs774075554 3:38946726-38946726 3:38905235-38905235
95 SCN11A NM_001349253.2(SCN11A):c.1192_1194GTT[1] (p.Val399del)short repeat Uncertain significance 575371 rs749659844 3:38950590-38950592 3:38909099-38909101
96 SCN11A NM_001349253.2(SCN11A):c.489G>A (p.Glu163=)SNV Uncertain significance 577979 rs774022892 3:38968422-38968422 3:38926931-38926931
97 SCN11A NM_001349253.2(SCN11A):c.4748A>G (p.Tyr1583Cys)SNV Uncertain significance 568309 rs1559482748 3:38888813-38888813 3:38847322-38847322
98 SCN11A NM_001349253.2(SCN11A):c.3851G>A (p.Gly1284Asp)SNV Uncertain significance 565966 rs755416318 3:38908912-38908912 3:38867421-38867421
99 SCN11A NM_001349253.2(SCN11A):c.3485A>G (p.Glu1162Gly)SNV Uncertain significance 577892 rs770327954 3:38913694-38913694 3:38872203-38872203
100 SCN11A NM_001349253.2(SCN11A):c.2522G>A (p.Arg841Gln)SNV Uncertain significance 571780 rs779067124 3:38936337-38936337 3:38894846-38894846
101 SCN11A NM_001349253.2(SCN11A):c.2319G>A (p.Met773Ile)SNV Uncertain significance 573757 rs1370117026 3:38938420-38938420 3:38896929-38896929
102 SCN11A NM_001349253.2(SCN11A):c.2307G>A (p.Trp769Ter)SNV Uncertain significance 574889 rs1553637480 3:38938432-38938432 3:38896941-38896941
103 SCN11A NM_001349253.2(SCN11A):c.2230del (p.Ser744fs)deletion Uncertain significance 580673 rs1559515746 3:38938509-38938509 3:38897018-38897018
104 SCN11A NM_001349253.2(SCN11A):c.1779C>A (p.Phe593Leu)SNV Uncertain significance 569282 rs1559520838 3:38945419-38945419 3:38903928-38903928
105 SCN11A NM_001349253.2(SCN11A):c.1385G>A (p.Gly462Asp)SNV Uncertain significance 579543 rs1229916082 3:38949528-38949528 3:38908037-38908037
106 SCN11A NM_001349253.2(SCN11A):c.974A>G (p.Gln325Arg)SNV Uncertain significance 566300 rs542904299 3:38951684-38951684 3:38910193-38910193
107 SCN11A NM_001349253.2(SCN11A):c.950T>C (p.Met317Thr)SNV Uncertain significance 570482 rs1559531816 3:38961435-38961435 3:38919944-38919944
108 SCN11A NM_001349253.2(SCN11A):c.887C>T (p.Ala296Val)SNV Uncertain significance 567219 rs146560458 3:38962572-38962572 3:38921081-38921081
109 SCN11A NM_001349253.2(SCN11A):c.4143T>G (p.Ile1381Met)SNV Uncertain significance 569618 rs1183602308 3:38892156-38892156 3:38850665-38850665
110 SCN11A NM_001349253.2(SCN11A):c.4057-7T>ASNV Uncertain significance 578763 rs976052295 3:38892249-38892249 3:38850758-38850758
111 SCN11A NM_001349253.2(SCN11A):c.3634G>T (p.Asp1212Tyr)SNV Uncertain significance 566025 rs966280936 3:38913061-38913061 3:38871570-38871570
112 SCN11A NM_001349253.2(SCN11A):c.3594_3596CTT[1] (p.Phe1200del)short repeat Uncertain significance 572538 rs752609562 3:38913096-38913098 3:38871605-38871607
113 SCN11A NM_001349253.2(SCN11A):c.2174G>A (p.Arg725His)SNV Uncertain significance 571276 rs752954989 3:38938565-38938565 3:38897074-38897074
114 SCN11A NM_001349253.2(SCN11A):c.2124G>A (p.Leu708=)SNV Uncertain significance 581310 rs745309562 3:38938615-38938615 3:38897124-38897124
115 SCN11A NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg)SNV Uncertain significance 582088 rs145734191 3:38938644-38938644 3:38897153-38897153
116 SCN11A NM_001349253.2(SCN11A):c.2093T>C (p.Val698Ala)SNV Uncertain significance 573695 rs747911047 3:38938646-38938646 3:38897155-38897155
117 SCN11A NM_001349253.2(SCN11A):c.959+5G>ASNV Uncertain significance 573301 rs373324936 3:38961421-38961421 3:38919930-38919930
118 SCN11A NM_001349253.2(SCN11A):c.673del (p.Arg225fs)deletion Uncertain significance 579947 rs1559535757 3:38966945-38966945 3:38925454-38925454
119 SCN11A NM_001349253.2(SCN11A):c.233T>C (p.Leu78Pro)SNV Uncertain significance 573398 rs1191209828 3:38991621-38991621 3:38950130-38950130
120 SCN11A NM_001349253.2(SCN11A):c.134_136del (p.Gly45del)deletion Uncertain significance 565541 rs768121531 3:38991718-38991720 3:38950227-38950229
121 SCN11A NM_001349253.2(SCN11A):c.4837G>A (p.Glu1613Lys)SNV Uncertain significance 587408 rs1559482661 3:38888724-38888724 3:38847233-38847233
122 SCN11A NM_001349253.2(SCN11A):c.5306C>T (p.Pro1769Leu)SNV Uncertain significance 641428 3:38888255-38888255 3:38846764-38846764
123 SCN11A NM_001349253.2(SCN11A):c.5242A>G (p.Met1748Val)SNV Uncertain significance 641460 3:38888319-38888319 3:38846828-38846828
124 SCN11A NM_001349253.2(SCN11A):c.5084G>A (p.Gly1695Asp)SNV Uncertain significance 641838 3:38888477-38888477 3:38846986-38846986
125 SCN11A NM_001349253.2(SCN11A):c.5036G>A (p.Arg1679His)SNV Uncertain significance 641532 3:38888525-38888525 3:38847034-38847034
126 SCN11A NM_001349253.2(SCN11A):c.5015T>C (p.Leu1672Ser)SNV Uncertain significance 648557 3:38888546-38888546 3:38847055-38847055
127 SCN11A NM_001349253.2(SCN11A):c.4966C>G (p.Pro1656Ala)SNV Uncertain significance 644943 3:38888595-38888595 3:38847104-38847104
128 SCN11A NM_001349253.2(SCN11A):c.4931C>T (p.Ser1644Phe)SNV Uncertain significance 640981 3:38888630-38888630 3:38847139-38847139
129 SCN11A NM_001349253.2(SCN11A):c.4646C>T (p.Thr1549Ile)SNV Uncertain significance 642222 3:38888915-38888915 3:38847424-38847424
130 SCN11A NM_001349253.2(SCN11A):c.4441C>T (p.Arg1481Ter)SNV Uncertain significance 662313 3:38889120-38889120 3:38847629-38847629
131 SCN11A NM_001349253.2(SCN11A):c.4397G>A (p.Arg1466His)SNV Uncertain significance 653037 3:38889164-38889164 3:38847673-38847673
132 SCN11A NM_001349253.2(SCN11A):c.3850G>A (p.Gly1284Ser)SNV Uncertain significance 649314 3:38908913-38908913 3:38867422-38867422
133 SCN11A NM_001349253.2(SCN11A):c.3736G>T (p.Ala1246Ser)SNV Uncertain significance 661980 3:38912959-38912959 3:38871468-38871468
134 SCN11A NM_001349253.2(SCN11A):c.3631A>G (p.Thr1211Ala)SNV Uncertain significance 657968 3:38913064-38913064 3:38871573-38871573
135 SCN11A NM_001349253.2(SCN11A):c.3449G>T (p.Arg1150Leu)SNV Uncertain significance 648481 3:38913730-38913730 3:38872239-38872239
136 SCN11A NM_001349253.2(SCN11A):c.3421A>G (p.Met1141Val)SNV Uncertain significance 644563 3:38913758-38913758 3:38872267-38872267
137 SCN11A NM_001349253.2(SCN11A):c.3137G>A (p.Arg1046Gln)SNV Uncertain significance 664871 3:38924806-38924806 3:38883315-38883315
138 SCN11A NM_001349253.2(SCN11A):c.3132C>A (p.Asn1044Lys)SNV Uncertain significance 655047 3:38924811-38924811 3:38883320-38883320
139 SCN11A NM_001349253.2(SCN11A):c.3118G>A (p.Val1040Ile)SNV Uncertain significance 649101 3:38924825-38924825 3:38883334-38883334
140 SCN11A NM_001349253.2(SCN11A):c.2912A>C (p.Glu971Ala)SNV Uncertain significance 652101 3:38927653-38927653 3:38886162-38886162
141 SCN11A NM_001349253.2(SCN11A):c.2776G>A (p.Val926Ile)SNV Uncertain significance 651318 3:38936083-38936083 3:38894592-38894592
142 SCN11A NM_001349253.2(SCN11A):c.2661G>A (p.Met887Ile)SNV Uncertain significance 653821 3:38936198-38936198 3:38894707-38894707
143 SCN11A NM_001349253.2(SCN11A):c.2596C>T (p.Gln866Ter)SNV Uncertain significance 649584 3:38936263-38936263 3:38894772-38894772
144 SCN11A NM_001349253.2(SCN11A):c.2546C>G (p.Thr849Ser)SNV Uncertain significance 646096 3:38936313-38936313 3:38894822-38894822
145 SCN11A NM_001349253.2(SCN11A):c.2521C>T (p.Arg841Trp)SNV Uncertain significance 660238 3:38936338-38936338 3:38894847-38894847
146 SCN11A NM_001349253.2(SCN11A):c.2474G>A (p.Gly825Glu)SNV Uncertain significance 661143 3:38936385-38936385 3:38894894-38894894
147 SCN11A NM_001349253.2(SCN11A):c.2395A>G (p.Lys799Glu)SNV Uncertain significance 650547 3:38938344-38938344 3:38896853-38896853
148 SCN11A NM_001349253.2(SCN11A):c.2381T>C (p.Ile794Thr)SNV Uncertain significance 646926 3:38938358-38938358 3:38896867-38896867
149 SCN11A NM_001349253.2(SCN11A):c.2342A>G (p.Asn781Ser)SNV Uncertain significance 644928 3:38938397-38938397 3:38896906-38896906
150 SCN11A NM_001349253.2(SCN11A):c.2109C>G (p.Ser703Arg)SNV Uncertain significance 644628 3:38938630-38938630 3:38897139-38897139
151 SCN11A NM_001349253.2(SCN11A):c.2008C>G (p.Arg670Gly)SNV Uncertain significance 650692 3:38941399-38941399 3:38899908-38899908
152 SCN11A NM_001349253.2(SCN11A):c.1970T>C (p.Met657Thr)SNV Uncertain significance 647431 3:38941437-38941437 3:38899946-38899946
153 SCN11A NM_001349253.2(SCN11A):c.1964A>T (p.Asp655Val)SNV Uncertain significance 662732 3:38941443-38941443 3:38899952-38899952
154 SCN11A NM_001349253.2(SCN11A):c.1934A>G (p.Asp645Gly)SNV Uncertain significance 658062 3:38941473-38941473 3:38899982-38899982
155 SCN11A NM_001349253.2(SCN11A):c.1842G>A (p.Leu614=)SNV Uncertain significance 642771 3:38945356-38945356 3:38903865-38903865
156 SCN11A NM_001349253.2(SCN11A):c.1621G>A (p.Glu541Lys)SNV Uncertain significance 662621 3:38945577-38945577 3:38904086-38904086
157 SCN11A NM_001349253.2(SCN11A):c.1602G>T (p.Lys534Asn)SNV Uncertain significance 657746 3:38946684-38946684 3:38905193-38905193
158 SCN11A NM_001349253.2(SCN11A):c.1576G>C (p.Val526Leu)SNV Uncertain significance 663163 3:38946710-38946710 3:38905219-38905219
159 SCN11A NM_001349253.2(SCN11A):c.1498C>T (p.Arg500Ter)SNV Uncertain significance 653181 3:38946788-38946788 3:38905297-38905297
160 SCN11A NM_001349253.2(SCN11A):c.1403C>A (p.Ser468Tyr)SNV Uncertain significance 660988 3:38949510-38949510 3:38908019-38908019
161 SCN11A NM_001349253.2(SCN11A):c.1223A>G (p.Lys408Arg)SNV Uncertain significance 663655 3:38950564-38950564 3:38909073-38909073
162 SCN11A NM_001349253.2(SCN11A):c.1019C>T (p.Thr340Met)SNV Uncertain significance 653720 3:38951639-38951639 3:38910148-38910148
163 SCN11A NM_001349253.2(SCN11A):c.854C>T (p.Ser285Leu)SNV Uncertain significance 648412 3:38962605-38962605 3:38921114-38921114
164 SCN11A NM_001349253.2(SCN11A):c.516del (p.Phe172fs)deletion Uncertain significance 655192 3:38968395-38968395 3:38926904-38926904
165 SCN11A NM_001349253.2(SCN11A):c.367A>G (p.Ile123Val)SNV Uncertain significance 649992 3:38988299-38988299 3:38946808-38946808
166 SCN11A NM_001349253.2(SCN11A):c.364G>A (p.Ala122Thr)SNV Uncertain significance 648476 3:38988302-38988302 3:38946811-38946811
167 SCN11A NM_001349253.2(SCN11A):c.261T>A (p.Asn87Lys)SNV Uncertain significance 647695 3:38991593-38991593 3:38950102-38950102
168 SCN11A NC_000003.11:g.(?_38966886)_(38967020_?)deldeletion Uncertain significance 652396 3:38966886-38967020 3:38925395-38925529
169 SCN11A NM_001349253.2(SCN11A):c.4327+2T>GSNV Uncertain significance 646301 3:38891970-38891970 3:38850479-38850479
170 SCN11A NM_001349253.2(SCN11A):c.3391_3393+7deldeletion Uncertain significance 660349 3:38921434-38921443 3:38879943-38879952
171 SCN11A NM_001349253.2(SCN11A):c.268-3C>TSNV Uncertain significance 662383 3:38988401-38988401 3:38946910-38946910
172 SCN11A NM_001349253.2(SCN11A):c.1683C>A (p.Pro561=)SNV Likely benign 541598 rs999052924 3:38945515-38945515 3:38904024-38904024
173 SCN11A NM_001349253.2(SCN11A):c.1605A>G (p.Glu535=)SNV Likely benign 541591 rs567731857 3:38945593-38945593 3:38904102-38904102
174 SCN11A NM_001349253.2(SCN11A):c.804C>T (p.Ala268=)SNV Likely benign 541601 rs368150786 3:38962655-38962655 3:38921164-38921164
175 SCN11A NM_001349253.2(SCN11A):c.741A>G (p.Leu247=)SNV Likely benign 541606 rs756839938 3:38962718-38962718 3:38921227-38921227
176 SCN11A NM_001349253.2(SCN11A):c.2881G>T (p.Val961Phe)SNV Likely benign 474713 rs367689714 3:38927684-38927684 3:38886193-38886193
177 SCN11A NM_001349253.2(SCN11A):c.702A>C (p.Ser234=)SNV Likely benign 474752 rs774523135 3:38966916-38966916 3:38925425-38925425
178 SCN11A NM_001349253.2(SCN11A):c.4064G>T (p.Cys1355Phe)SNV Likely benign 541600 rs555362768 3:38892235-38892235 3:38850744-38850744
179 SCN11A NM_001349253.2(SCN11A):c.2082C>T (p.Ile694=)SNV Likely benign 541597 rs369835845 3:38938657-38938657 3:38897166-38897166
180 SCN11A NM_001349253.2(SCN11A):c.2662A>G (p.Lys888Glu)SNV Likely benign 541608 rs763133649 3:38936197-38936197 3:38894706-38894706
181 SCN11A NM_001349253.2(SCN11A):c.48C>T (p.Phe16=)SNV Benign 541599 rs201111033 3:38991806-38991806 3:38950315-38950315
182 SCN11A NM_001349253.2(SCN11A):c.5037C>T (p.Arg1679=)SNV Benign 474740 rs61752574 3:38888524-38888524 3:38847033-38847033
183 SCN11A NM_001349253.2(SCN11A):c.4826C>T (p.Thr1609Ile)SNV Benign 474735 rs72869687 3:38888735-38888735 3:38847244-38847244
184 SCN11A NM_001349253.2(SCN11A):c.1941T>A (p.Ile647=)SNV Benign 474699 rs6809179 3:38941466-38941466 3:38899975-38899975
185 SCN11A NM_001349253.2(SCN11A):c.1442G>A (p.Gly481Glu)SNV Benign 474687 rs13059805 3:38949471-38949471 3:38907980-38907980
186 SCN11A NM_001349253.2(SCN11A):c.5334G>A (p.Leu1778=)SNV Benign 474748 rs4640498 3:38888227-38888227 3:38846736-38846736

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

73 (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

Pathways related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii according to GeneCards Suite gene sharing:

(showing 9, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 SCN3A SCN2A SCN1A SCN11A SCN10A
2
Show member pathways
13.04 SCN3A SCN2A SCN1A SCN11A SCN10A
3
Show member pathways
12.63 SCN3A SCN2A SCN1A SCN11A SCN10A
4
Show member pathways
12.45 SCN3A SCN2A SCN1A SCN11A SCN10A
5
Show member pathways
12.25 SCN3A SCN2A SCN1A SCN11A SCN10A
6 12.24 SCN2A SCN1A SCN11A SCN10A
7
Show member pathways
11.65 SCN3A SCN2A SCN1A SCN11A SCN10A
8
Show member pathways
11.23 SCN3A SCN2A SCN1A SCN11A SCN10A
9 10.5 SCN3A SCN2A SCN1A SCN11A SCN10A

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

Cellular components related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii according to GeneCards Suite gene sharing:

(showing 8, show less)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.91 SCN3A SCN2A SCN1A SCN11A SCN10A KCNH5
2 axon GO:0030424 9.46 SCN3A SCN2A SCN1A SCN11A
3 integral component of presynaptic membrane GO:0099056 9.4 SCN2A SCN10A
4 intercalated disc GO:0014704 9.37 SCN2A SCN1A
5 T-tubule GO:0030315 9.32 SCN2A SCN1A
6 node of Ranvier GO:0033268 9.26 SCN2A SCN1A
7 voltage-gated sodium channel complex GO:0001518 9.02 SCN3A SCN2A SCN1A SCN11A SCN10A
8 sodium channel complex GO:0034706 8.96 SCN2A SCN1A

Biological processes related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii according to GeneCards Suite gene sharing:

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.88 SCN3A SCN2A SCN1A SCN11A SCN10A KCNH5
2 transmembrane transport GO:0055085 9.85 SCN3A SCN2A SCN1A SCN11A SCN10A KCNH5
3 ion transmembrane transport GO:0034220 9.73 SCN3A SCN2A SCN1A SCN10A
4 sodium ion transport GO:0006814 9.72 SCN3A SCN2A SCN1A SCN11A SCN10A
5 sodium ion transmembrane transport GO:0035725 9.65 SCN3A SCN2A SCN1A SCN11A SCN10A
6 regulation of ion transmembrane transport GO:0034765 9.63 SCN3A SCN2A SCN1A SCN11A SCN10A KCNH5
7 regulation of membrane potential GO:0042391 9.46 SCN1A KCNH5
8 neuronal action potential GO:0019228 9.35 SCN3A SCN2A SCN1A SCN11A SCN10A
9 membrane depolarization during action potential GO:0086010 9.02 SCN3A SCN2A SCN1A SCN11A SCN10A

Molecular functions related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.65 SCN3A SCN2A SCN1A SCN11A SCN10A
2 voltage-gated ion channel activity GO:0005244 9.63 SCN3A SCN2A SCN1A SCN11A SCN10A KCNH5
3 sodium channel activity GO:0005272 9.35 SCN3A SCN2A SCN1A SCN11A SCN10A
4 voltage-gated sodium channel activity GO:0005248 9.02 SCN3A SCN2A SCN1A SCN11A SCN10A

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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