rs864321630

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

71382821

Gene

TAF1

is a	snp
is	mentioned by
dbSNP	rs864321630
dbSNP (classic)	rs864321630
ClinGen	rs864321630
ebi	rs864321630
HLI	rs864321630
Exac	rs864321630
Gnomad	rs864321630
Varsome	rs864321630
LitVar	rs864321630
Map	rs864321630
PheGenI	rs864321630
Biobank	rs864321630
1000 genomes	rs864321630
hgdp	rs864321630
ensembl	rs864321630
geneview	rs864321630
scholar	rs864321630
google	rs864321630
pharmgkb	rs864321630
gwascentral	rs864321630
openSNP	rs864321630
23andMe	rs864321630
SNPshot	rs864321630
SNPdbe	rs864321630
MSV3d	rs864321630
GWAS Ctlg	rs864321630

Max Magnitude

8.3

c.1786C>T (p.Pro596Ser)

ClinVar
Risk	Rs864321630(T;T)
Alt	Rs864321630(T;T)
Reference	Rs864321630(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	TAF1
CLNDBN	Mental retardation, X-linked, syndromic 33
Reversed	0
HGVS	NC_000023.10:g.70602671C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000203533.2,