rs267606817

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	4.4	Cardiac valvular dysplasia, X-linked
(A;T)	3	Carrier of a cardiac valvular dysplasia mutation (X-linked)
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

X

Position

154364263

Gene

FLNA

is a	snp
is	mentioned by
dbSNP	rs267606817
dbSNP (classic)	rs267606817
ClinGen	rs267606817
ebi	rs267606817
HLI	rs267606817
Exac	rs267606817
Gnomad	rs267606817
Varsome	rs267606817
LitVar	rs267606817
Map	rs267606817
PheGenI	rs267606817
Biobank	rs267606817
1000 genomes	rs267606817
hgdp	rs267606817
ensembl	rs267606817
geneview	rs267606817
scholar	rs267606817
google	rs267606817
pharmgkb	rs267606817
gwascentral	rs267606817
openSNP	rs267606817
23andMe	rs267606817
SNPshot	rs267606817
SNPdbe	rs267606817
MSV3d	rs267606817
GWAS Ctlg	rs267606817

Max Magnitude

4.4

aka c.2132T>A, p.Val711Asp and V711D

ClinVar
Risk	Rs267606817(A;A)
Alt	Rs267606817(A;A)
Reference	Rs267606817(T;T)
Significance	Pathogenic
Disease	Cardiac valvular dysplasia
Variation	info
Gene	FLNA
CLNDBN	Cardiac valvular dysplasia, X-linked
Reversed	1
HGVS	NC_000023.10:g.153592631A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012545.14,