rs267606816

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154367403

Gene

FLNA

is a	snp
is	mentioned by
dbSNP	rs267606816
dbSNP (classic)	rs267606816
ClinGen	rs267606816
ebi	rs267606816
HLI	rs267606816
Exac	rs267606816
Gnomad	rs267606816
Varsome	rs267606816
LitVar	rs267606816
Map	rs267606816
PheGenI	rs267606816
Biobank	rs267606816
1000 genomes	rs267606816
hgdp	rs267606816
ensembl	rs267606816
geneview	rs267606816
scholar	rs267606816
google	rs267606816
pharmgkb	rs267606816
gwascentral	rs267606816
openSNP	rs267606816
23andMe	rs267606816
SNPshot	rs267606816
SNPdbe	rs267606816
MSV3d	rs267606816
GWAS Ctlg	rs267606816

Max Magnitude

4.4

aka c.862G>A, p.Gly288Arg and G288R

ClinVar
Risk	Rs267606816(A;A)
Alt	Rs267606816(A;A)
Reference	Rs267606816(G;G)
Significance	Pathogenic
Disease	Cardiac valvular dysplasia
Variation	info
Gene	FLNA
CLNDBN	Cardiac valvular dysplasia, X-linked
Reversed	1
HGVS	NC_000023.10:g.153595771C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012544.22,