rs863225077

plus

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

Make rs863225077(-;-)

Make rs863225077(-;CT)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

114324384

Gene

CHAMP1

is a	snp
is	mentioned by
dbSNP	rs863225077
dbSNP (classic)	rs863225077
ClinGen	rs863225077
ebi	rs863225077
HLI	rs863225077
Exac	rs863225077
Gnomad	rs863225077
Varsome	rs863225077
LitVar	rs863225077
Map	rs863225077
PheGenI	rs863225077
Biobank	rs863225077
1000 genomes	rs863225077
hgdp	rs863225077
ensembl	rs863225077
geneview	rs863225077
scholar	rs863225077
google	rs863225077
pharmgkb	rs863225077
gwascentral	rs863225077
openSNP	rs863225077
23andMe	rs863225077
SNPshot	rs863225077
SNPdbe	rs863225077
MSV3d	rs863225077
GWAS Ctlg	rs863225077

Max Magnitude

0

aka c.542_543delCT (p.Ser181Cysfs)

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	rs863225077(-;-)
Alt	rs863225077(-;-)
Reference	Rs863225077(CT;CT)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	CHAMP1
CLNDBN	not provided
Reversed	0
HGVS	NC_000013.10:g.115089859_115089860delCT
CLNSRC
CLNACC	RCV000202137.2,