rs281875332

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs281875332(C;G)

Make rs281875332(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

5529331

Gene

ACTB

is a	snp
is	mentioned by
dbSNP	rs281875332
dbSNP (classic)	rs281875332
ClinGen	rs281875332
ebi	rs281875332
HLI	rs281875332
Exac	rs281875332
Gnomad	rs281875332
Varsome	rs281875332
LitVar	rs281875332
Map	rs281875332
PheGenI	rs281875332
Biobank	rs281875332
1000 genomes	rs281875332
hgdp	rs281875332
ensembl	rs281875332
geneview	rs281875332
scholar	rs281875332
google	rs281875332
pharmgkb	rs281875332
gwascentral	rs281875332
openSNP	rs281875332
23andMe	rs281875332
SNPshot	rs281875332
SNPdbe	rs281875332
MSV3d	rs281875332
GWAS Ctlg	rs281875332

Max Magnitude

0

ClinVar
Risk	rs281875332(G;G) rs281875332(T;T)
Alt	rs281875332(G;G) rs281875332(T;T)
Reference	Rs281875332(C;C)
Significance	Pathogenic
Disease	Baraitser-Winter syndrome 1 not provided
Variation	info
Gene	ACTB
CLNDBN	Baraitser-Winter syndrome 1 not provided
Reversed	1
HGVS	NC_000007.13:g.5568962G>A; NC_000007.13:g.5568962G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000133564.1, RCV000022441.27, RCV000059718.1,

[PMID 22366783] De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.