rs797044961

Orientation

plus

Stabilized

plus

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

Make rs797044961(-;-)

Make rs797044961(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

114324477

Gene

CHAMP1

is a	snp
is	mentioned by
dbSNP	rs797044961
dbSNP (classic)	rs797044961
ClinGen	rs797044961
ebi	rs797044961
HLI	rs797044961
Exac	rs797044961
Gnomad	rs797044961
Varsome	rs797044961
LitVar	rs797044961
Map	rs797044961
PheGenI	rs797044961
Biobank	rs797044961
1000 genomes	rs797044961
hgdp	rs797044961
ensembl	rs797044961
geneview	rs797044961
scholar	rs797044961
google	rs797044961
pharmgkb	rs797044961
gwascentral	rs797044961
openSNP	rs797044961
23andMe	rs797044961
SNPshot	rs797044961
SNPdbe	rs797044961
MSV3d	rs797044961
GWAS Ctlg	rs797044961

Max Magnitude

0

aka c.635delC (p.Pro212Leufs)

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

ClinVar
Risk	rs797044961(-;-)
Alt	rs797044961(-;-)
Reference	Rs797044961(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.115089952delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000190451.2, RCV000192003.4,