rs119103232
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a biotinidase deficiency mutation (probably) |
| (G;G) | 0 | common in clinvar |
| Make rs119103232(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 15635479 |
| Gene | BTD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119103232 |
| dbSNP (classic) | rs119103232 |
| ClinGen | rs119103232 |
| ebi | rs119103232 |
| HLI | rs119103232 |
| Exac | rs119103232 |
| Gnomad | rs119103232 |
| Varsome | rs119103232 |
| LitVar | rs119103232 |
| Map | rs119103232 |
| PheGenI | rs119103232 |
| Biobank | rs119103232 |
| 1000 genomes | rs119103232 |
| hgdp | rs119103232 |
| ensembl | rs119103232 |
| geneview | rs119103232 |
| scholar | rs119103232 |
| rs119103232 | |
| pharmgkb | rs119103232 |
| gwascentral | rs119103232 |
| openSNP | rs119103232 |
| 23andMe | rs119103232 |
| SNPshot | rs119103232 |
| SNPdbe | rs119103232 |
| MSV3d | rs119103232 |
| GWAS Ctlg | rs119103232 |
| Max Magnitude | 3 |
aka c.100G>A (p.Gly34Ser or G34S)
Conflicting interpretations exist for this variant; an older (1997) paper first reported it as pathogenic for biotinidase deficiency, and so does a newer (2017) ClinVar submitter as well as some prediction software, but the latest ClinVar submitter (as of 2018) considers it to be a variant of uncertain significance (though without explaining why).
| ClinVar | |
|---|---|
| Risk | rs119103232(A;A) |
| Alt | rs119103232(A;A) |
| Reference | Rs119103232(G;G) |
| Significance | Pathogenic |
| Disease | Biotinidase deficiency |
| Variation | info |
| Gene | BTD |
| CLNDBN | Biotinidase deficiency |
| Reversed | 0 |
| HGVS | NC_000003.11:g.15676986G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001976.1, |
