rs267607035
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 9 | Pontocerebellar hypoplasia type 2D |
(A;G) | 3 | Carrier of a Pontocerebellar hypoplasia type 2D mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 25152049 |
Gene | SEPSECS |
is a | snp |
is | mentioned by |
dbSNP | rs267607035 |
dbSNP (classic) | rs267607035 |
ClinGen | rs267607035 |
ebi | rs267607035 |
HLI | rs267607035 |
Exac | rs267607035 |
Gnomad | rs267607035 |
Varsome | rs267607035 |
LitVar | rs267607035 |
Map | rs267607035 |
PheGenI | rs267607035 |
Biobank | rs267607035 |
1000 genomes | rs267607035 |
hgdp | rs267607035 |
ensembl | rs267607035 |
geneview | rs267607035 |
scholar | rs267607035 |
rs267607035 | |
pharmgkb | rs267607035 |
gwascentral | rs267607035 |
openSNP | rs267607035 |
23andMe | rs267607035 |
SNPshot | rs267607035 |
SNPdbe | rs267607035 |
MSV3d | rs267607035 |
GWAS Ctlg | rs267607035 |
Max Magnitude | 9 |
SEPSECS gene mutation, known as c.715G>A, p.Ala239Thr or A239T; considered pathogenic in ClinVar for Pontocerebellar hypoplasia type 2D
ClinVar | |
---|---|
Risk | Rs267607035(A;A) |
Alt | Rs267607035(A;A) |
Reference | Rs267607035(G;G) |
Significance | Pathogenic |
Disease | Pontocerebellar hypoplasia type 2D |
Variation | info |
Gene | SEPSECS |
CLNDBN | Pontocerebellar hypoplasia type 2D |
Reversed | 1 |
HGVS | NC_000004.11:g.25153671C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000437.3, |