rs863225074
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs863225074(C;T) |
| Make rs863225074(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 13 |
| Position | 114325811 |
| Gene | CHAMP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863225074 |
| dbSNP (classic) | rs863225074 |
| ClinGen | rs863225074 |
| ebi | rs863225074 |
| HLI | rs863225074 |
| Exac | rs863225074 |
| Gnomad | rs863225074 |
| Varsome | rs863225074 |
| LitVar | rs863225074 |
| Map | rs863225074 |
| PheGenI | rs863225074 |
| Biobank | rs863225074 |
| 1000 genomes | rs863225074 |
| hgdp | rs863225074 |
| ensembl | rs863225074 |
| geneview | rs863225074 |
| scholar | rs863225074 |
| rs863225074 | |
| pharmgkb | rs863225074 |
| gwascentral | rs863225074 |
| openSNP | rs863225074 |
| 23andMe | rs863225074 |
| SNPshot | rs863225074 |
| SNPdbe | rs863225074 |
| MSV3d | rs863225074 |
| GWAS Ctlg | rs863225074 |
| Max Magnitude | 0 |
aka c.1969C>T (p.Gln657Ter)
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 | rs863225074(T;T) |
| Alt | rs863225074(T;T) |
| Reference | Rs863225074(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | CHAMP1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000013.10:g.115091286C>T |
| CLNSRC | |
| CLNACC | RCV000201964.1, |
