SCN4
MCID: NTR050
MIFTS: 37

Neutropenia, Severe Congenital, 4, Autosomal Recessive (SCN4)

Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Neutropenia, Severe Congenital, 4, Autosomal Recessive

MalaCards integrated aliases for Neutropenia, Severe Congenital, 4, Autosomal Recessive:

Name: Neutropenia, Severe Congenital, 4, Autosomal Recessive 57
Dursun Syndrome 57 73 71
Neutropenia, Severe Congenital 4, Autosomal Recessive 57 73
Scn4 57 73
Pulmonary Arterial Hypertension Leukopenia and Atrial Septal Defect 73
Neutropenia, Severe Congenital, Type 4, Autosomal Recessive 38
Neutropenia, Severe Congenital, Autosomal Recessive 4 71
Severe Congenital Neutropenia 4, Autosomal Recessive 5
Durss 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype
sepsis, neonatal


Classifications:



Summaries for Neutropenia, Severe Congenital, 4, Autosomal Recessive

UniProtKB/Swiss-Prot 73 Neutropenia, severe congenital 4, autosomal recessive: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.

Dursun syndrome: A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia.

MalaCards based summary: Neutropenia, Severe Congenital, 4, Autosomal Recessive, also known as dursun syndrome, is related to severe congenital neutropenia 4 and pulmonary hypertension, primary, 1. An important gene associated with Neutropenia, Severe Congenital, 4, Autosomal Recessive is G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 3). Affiliated tissues include neutrophil, bone marrow and bone, and related phenotypes are global developmental delay and hydronephrosis

More information from OMIM: 612541 PS202700

Related Diseases for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Diseases in the Neutropenia family:

Neutropenia, Chronic Familial Neutropenia, Severe Congenital, 1, Autosomal Dominant
Neutropenia, Severe Congenital, 3, Autosomal Recessive Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Severe Congenital, 2, Autosomal Dominant Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Severe Congenital, 6, Autosomal Recessive Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Severe Congenital, 8, Autosomal Dominant Neutropenia, Severe Congenital, 9, Autosomal Dominant
Severe Congenital Neutropenia Severe Congenital Neutropenia 1
Severe Congenital Neutropenia 7 Autosomal Dominant Severe Congenital Neutropenia
Severe Congenital Neutropenia 2 Severe Congenital Neutropenia 5
Severe Congenital Neutropenia 3 Severe Congenital Neutropenia 6
Severe Congenital Neutropenia 8 Severe Congenital Neutropenia 4
Elane-Related Neutropenia Acquired Neutropenia
Autosomal Recessive Severe Congenital Neutropenia

Diseases related to Neutropenia, Severe Congenital, 4, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 severe congenital neutropenia 4 11.2
2 pulmonary hypertension, primary, 1 10.0
3 pulmonary hypertension 10.0
4 heart septal defect 10.0
5 atrial heart septal defect 10.0
6 interatrial communication 10.0
7 dilution, pigmentary 9.9
8 inflammatory bowel disease 1 9.9
9 albinism, oculocutaneous, type iv 9.9
10 severe congenital neutropenia 9.9
11 oculocutaneous albinism 9.9
12 neutropenia 9.9
13 crohn's disease 9.9
14 g6pc3 deficiency 9.9
15 albinism 9.9

Graphical network of the top 20 diseases related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:



Diseases related to Neutropenia, Severe Congenital, 4, Autosomal Recessive

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Human phenotypes related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

30 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 30 Occasional (7.5%) HP:0001263
2 hydronephrosis 30 Occasional (7.5%) HP:0000126
3 inguinal hernia 30 Very rare (1%) HP:0000023
4 microcephaly 30 Very rare (1%) HP:0000252
5 sensorineural hearing impairment 30 Very rare (1%) HP:0000407
6 myopathy 30 Very rare (1%) HP:0003198
7 recurrent upper respiratory tract infections 30 Very rare (1%) HP:0002788
8 cleft palate 30 Very rare (1%) HP:0000175
9 cryptorchidism 30 Very rare (1%) HP:0000028
10 mitral regurgitation 30 Very rare (1%) HP:0001653
11 patent ductus arteriosus 30 Very rare (1%) HP:0001643
12 otitis media 30 Very rare (1%) HP:0000388
13 recurrent urinary tract infections 30 Very rare (1%) HP:0000010
14 pulmonic stenosis 30 Very rare (1%) HP:0001642
15 neutropenia 30 Very rare (1%) HP:0001875
16 hepatosplenomegaly 30 Very rare (1%) HP:0001433
17 oral ulcer 30 Very rare (1%) HP:0000155
18 panniculitis 30 Very rare (1%) HP:0012490
19 secundum atrial septal defect 30 Very rare (1%) HP:0001684
20 prominent superficial veins 30 Very rare (1%) HP:0001015
21 recurrent lower respiratory tract infections 30 Very rare (1%) HP:0002783
22 perianal abscess 30 Very rare (1%) HP:0009789
23 neonatal sepsis 30 Very rare (1%) HP:0040187
24 neonatal omphalitis 30 Very rare (1%) HP:0032435
25 urachus fistula 30 Very rare (1%) HP:0100525
26 intermittent thrombocytopenia 30 Very rare (1%) HP:0004854
27 cor triatriatum 30 Very rare (1%) HP:0010774
28 failure to thrive 30 HP:0001508
29 high palate 30 HP:0000218
30 respiratory insufficiency 30 HP:0002093
31 hearing impairment 30 HP:0000365
32 splenomegaly 30 HP:0001744
33 hepatomegaly 30 HP:0002240
34 recurrent respiratory infections 30 HP:0002205
35 wide nasal bridge 30 HP:0000431
36 pectus carinatum 30 HP:0000768
37 broad thumb 30 HP:0011304
38 anemia 30 HP:0001903
39 growth delay 30 HP:0001510
40 thrombocytopenia 30 HP:0001873
41 lymphopenia 30 HP:0001888
42 hypoplasia of the thymus 30 HP:0000778
43 varicose veins 30 HP:0002619
44 pulmonary arterial hypertension 30 HP:0002092
45 single transverse palmar crease 30 HP:0000954
46 leukopenia 30 HP:0001882
47 clinodactyly 30 HP:0030084
48 recurrent bacterial infections 30 HP:0002718
49 erythroid hypoplasia 30 HP:0012133
50 monocytosis 30 HP:0012311

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive
poor growth

Abdomen Spleen:
splenomegaly

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Skin:
varicose veins
prominent superficial venous pattern
venous angiectasia
venous stasis ulcer

Skeletal Hands:
clinodactyly
broad thumbs
simian crease
proximal localization of thumb

Head And Neck Nose:
broad nasal bridge

Genitourinary Kidneys:
hydronephrosis (1 patient)
renal agenesis, unilateral (1 patient)

Head And Neck Ears:
hearing loss (reported in 2 patients)

Endocrine Features:
poor secondary sexual development (1 family)
delayed or incomplete puberty (1 family)
increased serum tsh (2 patients)

Respiratory:
respiratory insufficiency
recurrent respiratory infections

Abdomen Liver:
hepatomegaly

Hematology:
anemia
thrombocytopenia
lymphopenia
neutropenia
leukopenia
more
Cardiovascular Vascular:
patent ductus arteriosus
pulmonary arterial hypertension (in 3 patients)

Immunology:
neutropenia
thymus hypoplasia
increased susceptibility to bacterial infections
few mature neutrophils in the bone marrow

Cardiovascular Heart:
cor triatriatum
pulmonary valve stenosis
atrial septal defect, secundum type
mitral insufficiency

Head And Neck Mouth:
high-arched palate
cleft palate (reported in 1 patient)

Head And Neck Head:
microcephaly (reported in 2 patients)

Neurologic Central Nervous System:
delayed development (1 family)
learning disabilities (1 family)

Clinical features from OMIM®:

612541 (Updated 08-Dec-2022)

Drugs & Therapeutics for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Search Clinical Trials, NIH Clinical Center for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Genetic Tests for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Anatomical Context for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Organs/tissues related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

MalaCards : Neutrophil, Bone Marrow, Bone, Thymus, Myeloid, Lung, Kidney
ODiseA: Blood And Bone Marrow, Respiratory System-Lung, Respiratory System, Kidney

Publications for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Articles related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

(show all 29)
# Title Authors PMID Year
1
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. 62 57 5
20717171 2011
2
Mutations in the G6PC3 gene cause Dursun syndrome. 62 57 5
20799326 2010
3
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. 57 5
20616219 2010
4
Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement. 57 5
19011569 2009
5
A syndrome with congenital neutropenia and mutations in G6PC3. 57 5
19118303 2009
6
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations. 62 5
25391451 2014
7
Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency. 57
30626647 2019
8
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry. 5
25491320 2014
9
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. 5
22050868 2012
10
A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia. 57
19696212 2009
11
Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review. 62
34964150 2022
12
The GmSNAP11 Contributes to Resistance to Soybean Cyst Nematode Race 4 in Glycine max. 62
35860531 2022
13
Full-Length Transcriptional Analysis of the Same Soybean Genotype With Compatible and Incompatible Reactions to Heterodera glycines Reveals Nematode Infection Activating Plant Defense Response. 62
35665156 2022
14
Gene variant effects across sodium channelopathies predict function and guide precision therapy. 62
35037686 2022
15
[Network pharmacology study of Tibetan medicine Corydalis Herba against acute myocardial ischemia]. 62
34467696 2021
16
Anaesthesia challenges of a parturient with paramyotonia congenita and terminal filum lipoma presenting for labour and caesarean section under epidural anaesthesia - a case report. 62
33602114 2021
17
Genome-Wide Association Study of Seed Folate Content in Common Bean. 62
34531882 2021
18
Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature. 62
34137364 2021
19
Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations. 62
34305938 2021
20
Reliability of breeding values for feed intake and feed efficiency traits in dairy cattle: When dry matter intake recordings are sparse under different scenarios. 62
31155258 2019
21
Effects of seasonal acclimatization on thermal tolerance of inward currents in roach (Rutilus rutilus) cardiac myocytes. 62
28942482 2018
22
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes. 62
25288127 2015
23
G6PC3 Deficiency 62
25879134 2015
24
Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines. 62
24549407 2014
25
A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency. 62
23441086 2013
26
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. 62
23758768 2013
27
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. 62
23171239 2012
28
A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification. 62
16624558 2006
29
Stable gold(III) complexes with thiosemicarbazone derivatives. 62
15252533 2004

Variations for Neutropenia, Severe Congenital, 4, Autosomal Recessive

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 4, Autosomal Recessive:

5 (show top 50) (show all 192)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 G6PC3 NM_138387.4(G6PC3):c.554T>C (p.Leu185Pro) SNV Pathogenic
1038 rs118203969 GRCh37: 17:42152696-42152696
GRCh38: 17:44075328-44075328
2 G6PC3 NM_138387.4(G6PC3):c.141C>G (p.Tyr47Ter) SNV Pathogenic
1039 rs118203970 GRCh37: 17:42148474-42148474
GRCh38: 17:44071106-44071106
3 G6PC3 NM_138387.4(G6PC3):c.784G>C (p.Gly262Arg) SNV Pathogenic
1040 rs118203971 GRCh37: 17:42153154-42153154
GRCh38: 17:44075786-44075786
4 G6PC3 NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter) SNV Pathogenic
653016 rs745582203 GRCh37: 17:42152707-42152707
GRCh38: 17:44075339-44075339
5 G6PC3 NM_138387.4(G6PC3):c.464del (p.Leu155fs) DEL Pathogenic
935219 rs1295168770 GRCh37: 17:42152381-42152381
GRCh38: 17:44075013-44075013
6 G6PC3 NM_138387.4(G6PC3):c.218+1G>A SNV Pathogenic
1430600 GRCh37: 17:42148552-42148552
GRCh38: 17:44071184-44071184
7 G6PC3 NM_138387.4(G6PC3):c.635del (p.Leu212fs) DEL Pathogenic
1451174 GRCh37: 17:42152777-42152777
GRCh38: 17:44075409-44075409
8 G6PC3 NM_138387.4(G6PC3):c.765_766del (p.Ala257fs) DEL Pathogenic
1342134 GRCh37: 17:42153135-42153136
GRCh38: 17:44075767-44075768
9 G6PC3 NM_138387.4(G6PC3):c.935dup (p.Asn313fs) DUP Pathogenic
189784 rs797044567 GRCh37: 17:42153301-42153302
GRCh38: 17:44075933-44075934
10 G6PC3 NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) SNV Pathogenic
189781 rs775224457 GRCh37: 17:42148463-42148463
GRCh38: 17:44071095-44071095
11 G6PC3 NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter) SNV Pathogenic
1705639 GRCh37: 17:42148477-42148477
GRCh38: 17:44071109-44071109
12 G6PC3 NM_138387.4(G6PC3):c.210del (p.Phe71fs) DEL Pathogenic
189782 rs769441127 GRCh37: 17:42148543-42148543
GRCh38: 17:44071175-44071175
13 G6PC3 NM_138387.4(G6PC3):c.758G>A (p.Arg253His) SNV Pathogenic
1037 rs118203968 GRCh37: 17:42153128-42153128
GRCh38: 17:44075760-44075760
14 G6PC3 NM_138387.4(G6PC3):c.207dup (p.Ile70fs) DUP Pathogenic
691992 rs1191239079 GRCh37: 17:42148539-42148540
GRCh38: 17:44071171-44071172
15 G6PC3 NM_138387.4(G6PC3):c.346A>G (p.Met116Val) SNV Pathogenic
1042 rs267606834 GRCh37: 17:42152068-42152068
GRCh38: 17:44074700-44074700
16 G6PC3 NM_138387.4(G6PC3):c.199_218+1del DEL Pathogenic
691994 rs1597905369 GRCh37: 17:42148527-42148547
GRCh38: 17:44071159-44071179
17 G6PC3 NM_138387.4(G6PC3):c.677+1G>A SNV Likely Pathogenic
1066709 GRCh37: 17:42152820-42152820
GRCh38: 17:44075452-44075452
18 G6PC3 NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg) SNV Likely Pathogenic
1339525 GRCh37: 17:42152059-42152059
GRCh38: 17:44074691-44074691
19 G6PC3 NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter) SNV Likely Pathogenic
632283 rs1194477276 GRCh37: 17:42148477-42148477
GRCh38: 17:44071109-44071109
20 G6PC3 NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln) SNV Conflicting Interpretations Of Pathogenicity
262367 rs140294222 GRCh37: 17:42152708-42152708
GRCh38: 17:44075340-44075340
21 G6PC3 NM_138387.4(G6PC3):c.201C>T (p.Leu67=) SNV Conflicting Interpretations Of Pathogenicity
323461 rs375273894 GRCh37: 17:42148534-42148534
GRCh38: 17:44071166-44071166
22 G6PC3 NM_138387.4(G6PC3):c.687C>T (p.Ser229=) SNV Conflicting Interpretations Of Pathogenicity
734136 rs377343204 GRCh37: 17:42153057-42153057
GRCh38: 17:44075689-44075689
23 G6PC3 NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg) SNV Conflicting Interpretations Of Pathogenicity
30874 rs200478425 GRCh37: 17:42153148-42153148
GRCh38: 17:44075780-44075780
24 G6PC3 NM_138387.4(G6PC3):c.142T>G (p.Tyr48Asp) SNV Uncertain Significance
1717434 GRCh37: 17:42148475-42148475
GRCh38: 17:44071107-44071107
25 G6PC3 NM_138387.4(G6PC3):c.203A>G (p.Asn68Ser) SNV Uncertain Significance
1715418 GRCh37: 17:42148536-42148536
GRCh38: 17:44071168-44071168
26 G6PC3 NM_138387.4(G6PC3):c.484A>G (p.Ile162Val) SNV Uncertain Significance
847646 rs148030756 GRCh37: 17:42152404-42152404
GRCh38: 17:44075036-44075036
27 G6PC3 NM_138387.4(G6PC3):c.757C>T (p.Arg253Cys) SNV Uncertain Significance
960968 rs765927570 GRCh37: 17:42153127-42153127
GRCh38: 17:44075759-44075759
28 G6PC3 NM_138387.4(G6PC3):c.300C>A (p.Phe100Leu) SNV Uncertain Significance
1384667 GRCh37: 17:42151609-42151609
GRCh38: 17:44074241-44074241
29 G6PC3 NM_138387.4(G6PC3):c.184C>T (p.Leu62Phe) SNV Uncertain Significance
1402926 GRCh37: 17:42148517-42148517
GRCh38: 17:44071149-44071149
30 G6PC3 NM_138387.4(G6PC3):c.50A>C (p.Asn17Thr) SNV Uncertain Significance
576699 rs375162061 GRCh37: 17:42148383-42148383
GRCh38: 17:44071015-44071015
31 G6PC3 NM_138387.4(G6PC3):c.809A>G (p.Tyr270Cys) SNV Uncertain Significance
1163100 GRCh37: 17:42153179-42153179
GRCh38: 17:44075811-44075811
32 G6PC3 NM_138387.4(G6PC3):c.1030C>T (p.His344Tyr) SNV Uncertain Significance
1336708 GRCh37: 17:42153400-42153400
GRCh38: 17:44076032-44076032
33 G6PC3 NM_138387.4(G6PC3):c.910C>T (p.Pro304Ser) SNV Uncertain Significance
1385278 GRCh37: 17:42153280-42153280
GRCh38: 17:44075912-44075912
34 G6PC3 NM_138387.4(G6PC3):c.643T>C (p.Trp215Arg) SNV Uncertain Significance
1308391 GRCh37: 17:42152785-42152785
GRCh38: 17:44075417-44075417
35 G6PC3 NM_138387.4(G6PC3):c.86T>C (p.Ile29Thr) SNV Uncertain Significance
1362301 GRCh37: 17:42148419-42148419
GRCh38: 17:44071051-44071051
36 G6PC3 NM_138387.4(G6PC3):c.412C>T (p.Arg138Cys) SNV Uncertain Significance
1439836 GRCh37: 17:42152134-42152134
GRCh38: 17:44074766-44074766
37 G6PC3 NM_138387.4(G6PC3):c.732T>A (p.Asp244Glu) SNV Uncertain Significance
1465199 GRCh37: 17:42153102-42153102
GRCh38: 17:44075734-44075734
38 G6PC3 NM_138387.4(G6PC3):c.731A>G (p.Asp244Gly) SNV Uncertain Significance
1469571 GRCh37: 17:42153101-42153101
GRCh38: 17:44075733-44075733
39 G6PC3 NM_138387.4(G6PC3):c.358G>T (p.Ala120Ser) SNV Uncertain Significance
1470969 GRCh37: 17:42152080-42152080
GRCh38: 17:44074712-44074712
40 G6PC3 NM_138387.4(G6PC3):c.536-4C>G SNV Uncertain Significance
1473263 GRCh37: 17:42152674-42152674
GRCh38: 17:44075306-44075306
41 G6PC3 NM_138387.4(G6PC3):c.806_808del (p.Cys269del) DEL Uncertain Significance
1492675 GRCh37: 17:42153174-42153176
GRCh38: 17:44075806-44075808
42 G6PC3 NM_138387.4(G6PC3):c.937A>T (p.Asn313Tyr) SNV Uncertain Significance
1470804 GRCh37: 17:42153307-42153307
GRCh38: 17:44075939-44075939
43 G6PC3 NM_138387.4(G6PC3):c.736C>T (p.Arg246Trp) SNV Uncertain Significance
1472871 GRCh37: 17:42153106-42153106
GRCh38: 17:44075738-44075738
44 G6PC3 NM_138387.4(G6PC3):c.145G>A (p.Ala49Thr) SNV Uncertain Significance
1480794 GRCh37: 17:42148478-42148478
GRCh38: 17:44071110-44071110
45 G6PC3 NM_138387.4(G6PC3):c.710G>A (p.Arg237Gln) SNV Uncertain Significance
1504493 GRCh37: 17:42153080-42153080
GRCh38: 17:44075712-44075712
46 G6PC3 NM_138387.4(G6PC3):c.56T>C (p.Leu19Pro) SNV Uncertain Significance
1504772 GRCh37: 17:42148389-42148389
GRCh38: 17:44071021-44071021
47 G6PC3 NM_138387.4(G6PC3):c.98G>A (p.Gly33Asp) SNV Uncertain Significance
1514976 GRCh37: 17:42148431-42148431
GRCh38: 17:44071063-44071063
48 G6PC3 NM_138387.4(G6PC3):c.110T>G (p.Ile37Ser) SNV Uncertain Significance
1515006 GRCh37: 17:42148443-42148443
GRCh38: 17:44071075-44071075
49 G6PC3 NM_138387.4(G6PC3):c.824G>A (p.Arg275Gln) SNV Uncertain Significance
850327 rs765872526 GRCh37: 17:42153194-42153194
GRCh38: 17:44075826-44075826
50 G6PC3 NM_138387.4(G6PC3):c.908C>A (p.Pro303His) SNV Uncertain Significance
851336 rs776556492 GRCh37: 17:42153278-42153278
GRCh38: 17:44075910-44075910

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 4, Autosomal Recessive:

73 (show all 20)
# Symbol AA change Variation ID SNP ID
1 G6PC3 p.Leu185Pro VAR_055156 rs118203969
2 G6PC3 p.Arg253His VAR_055157 rs118203968
3 G6PC3 p.Gly262Arg VAR_055158 rs118203971
4 G6PC3 p.Met116Lys VAR_064508
5 G6PC3 p.Met116Val VAR_064509 rs267606834
6 G6PC3 p.Arg189Gln VAR_064510 rs140294222
7 G6PC3 p.Gly260Arg VAR_064511 rs200478425
8 G6PC3 p.Pro44Ser VAR_072753 rs775224457
9 G6PC3 p.Trp59Arg VAR_072754 rs752966267
10 G6PC3 p.Met116Thr VAR_072756
11 G6PC3 p.Ser139Ile VAR_072757
12 G6PC3 p.Leu154Pro VAR_072758
13 G6PC3 p.Leu208Arg VAR_072759
14 G6PC3 p.Gly260Asp VAR_072760
15 G6PC3 p.Leu325Arg VAR_072761
16 G6PC3 p.Pro44Leu VAR_073174 rs762019955
17 G6PC3 p.Met116Ile VAR_073175 rs1373865222
18 G6PC3 p.Thr118Arg VAR_073176 rs766706036
19 G6PC3 p.Arg161Gln VAR_073177 rs1485073209
20 G6PC3 p.Arg253Cys VAR_073178 rs765927570

Expression for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Search GEO for disease gene expression data for Neutropenia, Severe Congenital, 4, Autosomal Recessive.

Pathways for Neutropenia, Severe Congenital, 4, Autosomal Recessive

GO Terms for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Sources for Neutropenia, Severe Congenital, 4, Autosomal Recessive

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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