rs797044962

Orientation

plus

Stabilized

plus

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

Make rs797044962(C;T)

Make rs797044962(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

114325034

Gene

CHAMP1

is a	snp
is	mentioned by
dbSNP	rs797044962
dbSNP (classic)	rs797044962
ClinGen	rs797044962
ebi	rs797044962
HLI	rs797044962
Exac	rs797044962
Gnomad	rs797044962
Varsome	rs797044962
LitVar	rs797044962
Map	rs797044962
PheGenI	rs797044962
Biobank	rs797044962
1000 genomes	rs797044962
hgdp	rs797044962
ensembl	rs797044962
geneview	rs797044962
scholar	rs797044962
google	rs797044962
pharmgkb	rs797044962
gwascentral	rs797044962
openSNP	rs797044962
23andMe	rs797044962
SNPshot	rs797044962
SNPdbe	rs797044962
MSV3d	rs797044962
GWAS Ctlg	rs797044962

Max Magnitude

0

aka c.1192C>T (p.Arg398Ter)

Considered pathogenic in ClinVar for a form of autosomal dominant mental retardation.

ClinVar
Risk	rs797044962(T;T)
Alt	rs797044962(T;T)
Reference	Rs797044962(C;C)
Significance	Pathogenic
Disease	intellectual disability with severe speech impairment Mental retardation
Variation	info
Gene	CHAMP1
CLNDBN	intellectual disability with severe speech impairment Mental retardation, autosomal dominant 40
Reversed	0
HGVS	NC_000013.10:g.115090509C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000190452.1, RCV000192002.3,