rs864321631

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	8.3	Mental retardation, syndromic 33, X-linked
(C;G)	3	Carrier of a mutation for an X-linked form of mental retardation, syndromic 33
(G;G)	0	common in clinvar

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

71392653

Gene

TAF1

is a	snp
is	mentioned by
dbSNP	rs864321631
dbSNP (classic)	rs864321631
ClinGen	rs864321631
ebi	rs864321631
HLI	rs864321631
Exac	rs864321631
Gnomad	rs864321631
Varsome	rs864321631
LitVar	rs864321631
Map	rs864321631
PheGenI	rs864321631
Biobank	rs864321631
1000 genomes	rs864321631
hgdp	rs864321631
ensembl	rs864321631
geneview	rs864321631
scholar	rs864321631
google	rs864321631
pharmgkb	rs864321631
gwascentral	rs864321631
openSNP	rs864321631
23andMe	rs864321631
SNPshot	rs864321631
SNPdbe	rs864321631
MSV3d	rs864321631
GWAS Ctlg	rs864321631

Max Magnitude

8.3

c.2926G>C (p.Asp976His)

ClinVar
Risk	Rs864321631(C;C)
Alt	Rs864321631(C;C)
Reference	Rs864321631(G;G)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	TAF1
CLNDBN	Mental retardation, X-linked, syndromic 33
Reversed	0
HGVS	NC_000023.10:g.70612503G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000203549.2,