rs281875325

Orientation

minus

Stabilized

minus

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

Make rs281875325(C;T)

Make rs281875325(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81511907

Gene	ACTG1, FSCN2

is a	snp
is	mentioned by
dbSNP	rs281875325
dbSNP (classic)	rs281875325
ClinGen	rs281875325
ebi	rs281875325
HLI	rs281875325
Exac	rs281875325
Gnomad	rs281875325
Varsome	rs281875325
LitVar	rs281875325
Map	rs281875325
PheGenI	rs281875325
Biobank	rs281875325
1000 genomes	rs281875325
hgdp	rs281875325
ensembl	rs281875325
geneview	rs281875325
scholar	rs281875325
google	rs281875325
pharmgkb	rs281875325
gwascentral	rs281875325
openSNP	rs281875325
23andMe	rs281875325
SNPshot	rs281875325
SNPdbe	rs281875325
MSV3d	rs281875325
GWAS Ctlg	rs281875325

Max Magnitude

0

ClinVar
Risk	rs281875325(T;T)
Alt	rs281875325(T;T)
Reference	Rs281875325(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.79478933G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000022423.27, RCV000059723.1,

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