rs863225076
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863225076(-;-) |
Make rs863225076(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 114324886 |
Gene | CHAMP1 |
is a | snp |
is | mentioned by |
dbSNP | rs863225076 |
dbSNP (classic) | rs863225076 |
ClinGen | rs863225076 |
ebi | rs863225076 |
HLI | rs863225076 |
Exac | rs863225076 |
Gnomad | rs863225076 |
Varsome | rs863225076 |
LitVar | rs863225076 |
Map | rs863225076 |
PheGenI | rs863225076 |
Biobank | rs863225076 |
1000 genomes | rs863225076 |
hgdp | rs863225076 |
ensembl | rs863225076 |
geneview | rs863225076 |
scholar | rs863225076 |
rs863225076 | |
pharmgkb | rs863225076 |
gwascentral | rs863225076 |
openSNP | rs863225076 |
23andMe | rs863225076 |
SNPshot | rs863225076 |
SNPdbe | rs863225076 |
MSV3d | rs863225076 |
GWAS Ctlg | rs863225076 |
Max Magnitude | 0 |
aka c.1044delG (p.Trp348Terfs)
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 | rs863225076(-;-) |
Alt | rs863225076(-;-) |
Reference | Rs863225076(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CHAMP1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.115090361delG |
CLNSRC | |
CLNACC | RCV000202042.1, |