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rs267607142

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 7 Progressive familial heart block type 1B (Brugada syndrome)
(G;G) 0 common in clinvar


Make rs267607142(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position49157885
GeneTRPM4
is asnp
is mentioned by
dbSNPrs267607142
ebirs267607142
HLIrs267607142
Exacrs267607142
Varsomers267607142
Maprs267607142
PheGenIrs267607142
hapmaprs267607142
1000 genomesrs267607142
hgdprs267607142
ensemblrs267607142
gopubmedrs267607142
geneviewrs267607142
scholarrs267607142
googlers267607142
pharmgkbrs267607142
gwascentralrs267607142
openSNPrs267607142
23andMers267607142
23andMe allrs267607142
SNP Nexus

SNPshotrs267607142
SNPdbers267607142
MSV3drs267607142
GWAS Ctlgrs267607142
Max Magnitude7

rs267607142, also known as c.19G>A, p.Glu7Lys and E7K, 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 rs267607142(A;A)
Alt rs267607142(A;A)
Reference rs267607142(G;G)
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.49661142G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003968.2,