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rs267607035

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome4
Position25152049
GeneSEPSECS
is asnp
is mentioned by
dbSNPrs267607035
ebirs267607035
HLIrs267607035
Exacrs267607035
Varsomers267607035
Maprs267607035
PheGenIrs267607035
hapmaprs267607035
1000 genomesrs267607035
hgdprs267607035
ensemblrs267607035
gopubmedrs267607035
geneviewrs267607035
scholarrs267607035
googlers267607035
pharmgkbrs267607035
gwascentralrs267607035
openSNPrs267607035
23andMers267607035
23andMe allrs267607035
SNP Nexus

SNPshotrs267607035
SNPdbers267607035
MSV3drs267607035
GWAS Ctlgrs267607035
Max Magnitude9

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
CLNACC RCV000000437.3,