rs797044963

Orientation

plus

Stabilized

plus

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

Make rs797044963(-;-)

Make rs797044963(-;CA)

Make rs797044963(CA;CA)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

114325708

Gene

CHAMP1

is a	snp
is	mentioned by
dbSNP	rs797044963
dbSNP (classic)	rs797044963
ClinGen	rs797044963
ebi	rs797044963
HLI	rs797044963
Exac	rs797044963
Gnomad	rs797044963
Varsome	rs797044963
LitVar	rs797044963
Map	rs797044963
PheGenI	rs797044963
Biobank	rs797044963
1000 genomes	rs797044963
hgdp	rs797044963
ensembl	rs797044963
geneview	rs797044963
scholar	rs797044963
google	rs797044963
pharmgkb	rs797044963
gwascentral	rs797044963
openSNP	rs797044963
23andMe	rs797044963
SNPshot	rs797044963
SNPdbe	rs797044963
MSV3d	rs797044963
GWAS Ctlg	rs797044963

Max Magnitude

0

aka c.1866_1867delCA (p.Asp622Glufs)

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

ClinVar
Risk	rs797044963(-;-)
Alt	rs797044963(-;-)
Reference	Rs797044963(AC;AC)
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.115091183_115091184delCA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000190454.1, RCV000192000.3,