rs864321628

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

71387393

Gene

TAF1

is a	snp
is	mentioned by
dbSNP	rs864321628
dbSNP (classic)	rs864321628
ClinGen	rs864321628
ebi	rs864321628
HLI	rs864321628
Exac	rs864321628
Gnomad	rs864321628
Varsome	rs864321628
LitVar	rs864321628
Map	rs864321628
PheGenI	rs864321628
Biobank	rs864321628
1000 genomes	rs864321628
hgdp	rs864321628
ensembl	rs864321628
geneview	rs864321628
scholar	rs864321628
google	rs864321628
pharmgkb	rs864321628
gwascentral	rs864321628
openSNP	rs864321628
23andMe	rs864321628
SNPshot	rs864321628
SNPdbe	rs864321628
MSV3d	rs864321628
GWAS Ctlg	rs864321628

Max Magnitude

8.3

c.2419T>C (p.Cys807Arg)

ClinVar
Risk	Rs864321628(C;C)
Alt	Rs864321628(C;C)
Reference	Rs864321628(T;T)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	TAF1
CLNDBN	Mental retardation, X-linked, syndromic 33
Reversed	0
HGVS	NC_000023.10:g.70607243T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000203551.2,