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rs387907216

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 7 Progressive familial heart block type 1B (Brugada syndrome)
Make rs387907216(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position49168301
GeneTRPM4
is asnp
is mentioned by
dbSNPrs387907216
ebirs387907216
HLIrs387907216
Exacrs387907216
Varsomers387907216
Maprs387907216
PheGenIrs387907216
hapmaprs387907216
1000 genomesrs387907216
hgdprs387907216
ensemblrs387907216
gopubmedrs387907216
geneviewrs387907216
scholarrs387907216
googlers387907216
pharmgkbrs387907216
gwascentralrs387907216
openSNPrs387907216
23andMers387907216
23andMe allrs387907216
SNP Nexus

SNPshotrs387907216
SNPdbers387907216
MSV3drs387907216
GWAS Ctlgrs387907216
Max Magnitude7

rs387907216, also known as c.490C>T, p.Arg164Trp and R164W, represents a rare mutation in the TRPM4 gene.

The minor allele is considered causative in a dominant manner for progressive familial heart block type 1B in ClinVar.

ClinVar
Risk rs387907216(T;T)
Alt rs387907216(T;T)
Reference rs387907216(C;C)
Significance Pathogenic
Disease Progressive familial heart block type 1B
Variation info
Gene TRPM4
CLNDBN Progressive familial heart block type 1B
Reversed 0
HGVS NC_000019.9:g.49671558C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000029160.2,