rs200070245

Orientation

plus

Stabilized

plus

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

Make rs200070245(A;A)

Make rs200070245(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

114325610

Gene

CHAMP1

is a	snp
is	mentioned by
dbSNP	rs200070245
dbSNP (classic)	rs200070245
ClinGen	rs200070245
ebi	rs200070245
HLI	rs200070245
Exac	rs200070245
Gnomad	rs200070245
Varsome	rs200070245
LitVar	rs200070245
Map	rs200070245
PheGenI	rs200070245
Biobank	rs200070245
1000 genomes	rs200070245
hgdp	rs200070245
ensembl	rs200070245
geneview	rs200070245
scholar	rs200070245
google	rs200070245
pharmgkb	rs200070245
gwascentral	rs200070245
openSNP	rs200070245
23andMe	rs200070245
SNPshot	rs200070245
SNPdbe	rs200070245
MSV3d	rs200070245
GWAS Ctlg	rs200070245

Max Magnitude

0

aka c.1768C>T (p.Gln590Ter)

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

ClinVar
Risk	rs200070245(A;A) rs200070245(T;T)
Alt	rs200070245(A;A) rs200070245(T;T)
Reference	Rs200070245(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.115091085C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000190453.1, RCV000192001.3,