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rs121908916

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of one allele for insensitivity to pain
(T;T) 4 Congenital insensitivity to pain
ReferenceGRCh38 38.1/141
Chromosome2
Position166303162
GeneSCN9A
is asnp
is mentioned by
dbSNPrs121908916
ebirs121908916
HLIrs121908916
Exacrs121908916
Varsomers121908916
Maprs121908916
PheGenIrs121908916
hapmaprs121908916
1000 genomesrs121908916
hgdprs121908916
ensemblrs121908916
gopubmedrs121908916
geneviewrs121908916
scholarrs121908916
googlers121908916
pharmgkbrs121908916
gwascentralrs121908916
openSNPrs121908916
23andMers121908916
23andMe allrs121908916
SNP Nexus

SNPshotrs121908916
SNPdbers121908916
MSV3drs121908916
GWAS Ctlgrs121908916
Max Magnitude4

rs121908916, also known as c.829C>T, p.Arg277Ter and R277X, is a rare mutation in the SCN9A gene on chromosome 2.

Inherited in a recessive manner, the homozygous minor genotype for this SNP is reported to result in insensitivity to pain.

OMIM603415
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908916(A,T;A,T)
Alt rs121908916(A,T;A,T)
Reference rs121908916(C;C)
Significance Pathogenic
Disease Indifference to pain
Variation info
Gene SCN9A
CLNDBN Indifference to pain, congenital, autosomal recessive
Reversed 1
HGVS NC_000002.11:g.167159672G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006734.3,