rs267606815

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154364638

Gene

FLNA

is a	snp
is	mentioned by
dbSNP	rs267606815
dbSNP (classic)	rs267606815
ClinGen	rs267606815
ebi	rs267606815
HLI	rs267606815
Exac	rs267606815
Gnomad	rs267606815
Varsome	rs267606815
LitVar	rs267606815
Map	rs267606815
PheGenI	rs267606815
Biobank	rs267606815
1000 genomes	rs267606815
hgdp	rs267606815
ensembl	rs267606815
geneview	rs267606815
scholar	rs267606815
google	rs267606815
pharmgkb	rs267606815
gwascentral	rs267606815
openSNP	rs267606815
23andMe	rs267606815
SNPshot	rs267606815
SNPdbe	rs267606815
MSV3d	rs267606815
GWAS Ctlg	rs267606815

Max Magnitude

4.4

aka c.1910C>A, p.Pro637Gln and P637Q

ClinVar
Risk	Rs267606815(A;A) rs267606815(T;T)
Alt	Rs267606815(A;A) rs267606815(T;T)
Reference	Rs267606815(C;C)
Significance	Pathogenic
Disease	Cardiac valvular dysplasia
Variation	info
Gene	FLNA
CLNDBN	Cardiac valvular dysplasia, X-linked
Reversed	1
HGVS	NC_000023.10:g.153593006G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012543.25,