rs773876739
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 9 | Pontocerebellar hypoplasia type 2D |
(C;T) | 3 | Carrier of a Pontocerebellar hypoplasia type 2D mutation |
(T;T) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 25123971 |
Gene | SEPSECS |
is a | snp |
is | mentioned by |
dbSNP | rs773876739 |
dbSNP (classic) | rs773876739 |
ClinGen | rs773876739 |
ebi | rs773876739 |
HLI | rs773876739 |
Exac | rs773876739 |
Gnomad | rs773876739 |
Varsome | rs773876739 |
LitVar | rs773876739 |
Map | rs773876739 |
PheGenI | rs773876739 |
Biobank | rs773876739 |
1000 genomes | rs773876739 |
hgdp | rs773876739 |
ensembl | rs773876739 |
geneview | rs773876739 |
scholar | rs773876739 |
rs773876739 | |
pharmgkb | rs773876739 |
gwascentral | rs773876739 |
openSNP | rs773876739 |
23andMe | rs773876739 |
SNPshot | rs773876739 |
SNPdbe | rs773876739 |
MSV3d | rs773876739 |
GWAS Ctlg | rs773876739 |
Max Magnitude | 9 |
SEPSECS gene mutation, known as c.1466A>T, p.Asp489Val or D489V; considered pathogenic in ClinVar for Pontocerebellar hypoplasia type 2D
ClinVar | |
---|---|
Risk | rs773876739(A;A) Rs773876739(C;C) |
Alt | rs773876739(A;A) Rs773876739(C;C) |
Reference | Rs773876739(T;T) |
Significance | Pathogenic |
Disease | Pontocerebellar hypoplasia type 2D |
Variation | info |
Gene | SEPSECS |
CLNDBN | Pontocerebellar hypoplasia type 2D |
Reversed | 0 |
HGVS | NC_000004.11:g.25125593T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170363.3, |