rs879255261

Orientation

plus

Stabilized

plus

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

Make rs879255261(A;A)

Make rs879255261(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

13

Position

114324844

Gene

CHAMP1

is a	snp
is	mentioned by
dbSNP	rs879255261
dbSNP (classic)	rs879255261
ClinGen	rs879255261
ebi	rs879255261
HLI	rs879255261
Exac	rs879255261
Gnomad	rs879255261
Varsome	rs879255261
LitVar	rs879255261
Map	rs879255261
PheGenI	rs879255261
Biobank	rs879255261
1000 genomes	rs879255261
hgdp	rs879255261
ensembl	rs879255261
geneview	rs879255261
scholar	rs879255261
google	rs879255261
pharmgkb	rs879255261
gwascentral	rs879255261
openSNP	rs879255261
23andMe	rs879255261
SNPshot	rs879255261
SNPdbe	rs879255261
MSV3d	rs879255261
GWAS Ctlg	rs879255261

Max Magnitude

0

aka c.1002G>A (p.Trp334Ter)

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

ClinVar
Risk	rs879255261(A;A)
Alt	rs879255261(A;A)
Reference	Rs879255261(G;G)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	CHAMP1
CLNDBN	Mental retardation, autosomal dominant 40
Reversed	0
HGVS	NC_000013.10:g.115090319G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000191998.3,