rs281875329

Orientation

minus

Stabilized

minus

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

Make rs281875329(C;T)

Make rs281875329(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81511224

Gene	ACTG1, FSCN2

is a	snp
is	mentioned by
dbSNP	rs281875329
dbSNP (classic)	rs281875329
ClinGen	rs281875329
ebi	rs281875329
HLI	rs281875329
Exac	rs281875329
Gnomad	rs281875329
Varsome	rs281875329
LitVar	rs281875329
Map	rs281875329
PheGenI	rs281875329
Biobank	rs281875329
1000 genomes	rs281875329
hgdp	rs281875329
ensembl	rs281875329
geneview	rs281875329
scholar	rs281875329
google	rs281875329
pharmgkb	rs281875329
gwascentral	rs281875329
openSNP	rs281875329
23andMe	rs281875329
SNPshot	rs281875329
SNPdbe	rs281875329
MSV3d	rs281875329
GWAS Ctlg	rs281875329

Max Magnitude

0

ClinVar
Risk	rs281875329(A;A) rs281875329(T;T)
Alt	rs281875329(A;A) rs281875329(T;T)
Reference	Rs281875329(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.79478250G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000022427.28, RCV000059730.1,

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