rs201457110

Mitral Valve Prolapse

plus

Geno	Mag	Summary
(C;C)	0	common/normal
(C;T)	3.5	Mitral valve prolapse

Make rs201457110(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

6624138

Gene

DCHS1

is a	snp
is	mentioned by
dbSNP	rs201457110
dbSNP (classic)	rs201457110
ClinGen	rs201457110
ebi	rs201457110
HLI	rs201457110
Exac	rs201457110
Gnomad	rs201457110
Varsome	rs201457110
LitVar	rs201457110
Map	rs201457110
PheGenI	rs201457110
Biobank	rs201457110
1000 genomes	rs201457110
hgdp	rs201457110
ensembl	rs201457110
geneview	rs201457110
scholar	rs201457110
google	rs201457110
pharmgkb	rs201457110
gwascentral	rs201457110
openSNP	rs201457110
23andMe	rs201457110
SNPshot	rs201457110
SNPdbe	rs201457110
MSV3d	rs201457110
GWAS Ctlg	rs201457110

Max Magnitude

3.5

rs201457110, also known as c.7538G>A, p.Arg2513His and R2513H, is a mutation in the DCHS1 gene on chromosome 11.

Sequencing a family with several members affected by mitral valve prolapse (MVP) lead to the discovery of the rare rs201457110 mutation. Acting as an autosomal dominant, the rs201457110(T) allele was reported to be a causative mutation for MVP.[PMID 26258302 ]

ClinVar
Risk	rs201457110(T;T)
Alt	rs201457110(T;T)
Reference	Rs201457110(C;C)
Significance	Pathogenic
Disease	Mitral valve prolapse 2
Variation	info
Gene	DCHS1
CLNDBN	Mitral valve prolapse 2
Reversed	0
HGVS	NC_000011.9:g.6645369C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000201949.2,