rs281875326

Orientation

minus

Stabilized

minus

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

Make rs281875326(C;T)

Make rs281875326(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81511526

Gene	ACTG1, FSCN2

is a	snp
is	mentioned by
dbSNP	rs281875326
dbSNP (classic)	rs281875326
ClinGen	rs281875326
ebi	rs281875326
HLI	rs281875326
Exac	rs281875326
Gnomad	rs281875326
Varsome	rs281875326
LitVar	rs281875326
Map	rs281875326
PheGenI	rs281875326
Biobank	rs281875326
1000 genomes	rs281875326
hgdp	rs281875326
ensembl	rs281875326
geneview	rs281875326
scholar	rs281875326
google	rs281875326
pharmgkb	rs281875326
gwascentral	rs281875326
openSNP	rs281875326
23andMe	rs281875326
SNPshot	rs281875326
SNPdbe	rs281875326
MSV3d	rs281875326
GWAS Ctlg	rs281875326

Max Magnitude

0

ClinVar
Risk	rs281875326(T;T)
Alt	rs281875326(T;T)
Reference	Rs281875326(C;C)
Significance	Pathogenic
Disease	Baraitser-Winter Syndrome 2 not provided
Variation	info
Gene	ACTG1
CLNDBN	Baraitser-Winter Syndrome 2 not provided
Reversed	1
HGVS	NC_000017.10:g.79478552G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000022422.29, RCV000059726.1,

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