rs886041988
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs886041988(-;A) |
| Make rs886041988(A;A) |
| Chromosome | 13 |
| Position | 114325692 |
| Gene | CHAMP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886041988 |
| dbSNP (classic) | rs886041988 |
| ClinGen | rs886041988 |
| ebi | rs886041988 |
| HLI | rs886041988 |
| Exac | rs886041988 |
| Gnomad | rs886041988 |
| Varsome | rs886041988 |
| LitVar | rs886041988 |
| Map | rs886041988 |
| PheGenI | rs886041988 |
| Biobank | rs886041988 |
| 1000 genomes | rs886041988 |
| hgdp | rs886041988 |
| ensembl | rs886041988 |
| geneview | rs886041988 |
| scholar | rs886041988 |
| rs886041988 | |
| pharmgkb | rs886041988 |
| gwascentral | rs886041988 |
| openSNP | rs886041988 |
| 23andMe | rs886041988 |
| SNPshot | rs886041988 |
| SNPdbe | rs886041988 |
| MSV3d | rs886041988 |
| GWAS Ctlg | rs886041988 |
| Max Magnitude | 0 |
aka c.1850dup (p.Lys618Glufs)
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 | rs886041988(A;A) |
| Alt | rs886041988(A;A) |
| Reference | Rs886041988(-;-) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | CHAMP1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000013.10:g.115091167dupA |
| CLNSRC | |
| CLNACC | RCV000308859.1, |
