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rs267607036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a Pontocerebellar hypoplasia type 2D mutation
(G;G) 9 Pontocerebellar hypoplasia type 2D
ReferenceGRCh38 38.1/141
Chromosome4
Position25144799
GeneSEPSECS
is asnp
is mentioned by
dbSNPrs267607036
ebirs267607036
HLIrs267607036
Exacrs267607036
Varsomers267607036
Maprs267607036
PheGenIrs267607036
hapmaprs267607036
1000 genomesrs267607036
hgdprs267607036
ensemblrs267607036
gopubmedrs267607036
geneviewrs267607036
scholarrs267607036
googlers267607036
pharmgkbrs267607036
gwascentralrs267607036
openSNPrs267607036
23andMers267607036
23andMe allrs267607036
SNP Nexus

SNPshotrs267607036
SNPdbers267607036
MSV3drs267607036
GWAS Ctlgrs267607036
Max Magnitude9

SEPSECS gene mutation, known as c.1001A>G, p.Tyr334Cys or Y334C; considered pathogenic in ClinVar for Pontocerebellar hypoplasia type 2D

ClinVar
Risk rs267607036(G;G)
Alt rs267607036(G;G)
Reference rs267607036(A;A)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 2D
Variation info
Gene SEPSECS
CLNDBN Pontocerebellar hypoplasia type 2D
Reversed 1
HGVS NC_000004.11:g.25146421T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000436.3,