rs863225078

plus

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

Make rs863225078(C;T)

Make rs863225078(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

114325787

Gene

CHAMP1

is a	snp
is	mentioned by
dbSNP	rs863225078
dbSNP (classic)	rs863225078
ClinGen	rs863225078
ebi	rs863225078
HLI	rs863225078
Exac	rs863225078
Gnomad	rs863225078
Varsome	rs863225078
LitVar	rs863225078
Map	rs863225078
PheGenI	rs863225078
Biobank	rs863225078
1000 genomes	rs863225078
hgdp	rs863225078
ensembl	rs863225078
geneview	rs863225078
scholar	rs863225078
google	rs863225078
pharmgkb	rs863225078
gwascentral	rs863225078
openSNP	rs863225078
23andMe	rs863225078
SNPshot	rs863225078
SNPdbe	rs863225078
MSV3d	rs863225078
GWAS Ctlg	rs863225078

Max Magnitude

0

aka c.1945C>T (p.Gln649Ter)

Considered pathogenic in ClinVar; condition not specified, but based on similar mutations also in the CHAMP1 gene, likely to be a form of autosomal dominant mental retardation.

ClinVar
Risk	rs863225078(T;T)
Alt	rs863225078(T;T)
Reference	Rs863225078(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	CHAMP1
CLNDBN	not provided
Reversed	0
HGVS	NC_000013.10:g.115091262C>T
CLNSRC
CLNACC	RCV000202275.1,