rs80338686
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a biotinidase deficiency mutation |
| Make rs80338686(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 15645468 |
| Gene | BTD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338686 |
| dbSNP (classic) | rs80338686 |
| ClinGen | rs80338686 |
| ebi | rs80338686 |
| HLI | rs80338686 |
| Exac | rs80338686 |
| Gnomad | rs80338686 |
| Varsome | rs80338686 |
| LitVar | rs80338686 |
| Map | rs80338686 |
| PheGenI | rs80338686 |
| Biobank | rs80338686 |
| 1000 genomes | rs80338686 |
| hgdp | rs80338686 |
| ensembl | rs80338686 |
| geneview | rs80338686 |
| scholar | rs80338686 |
| rs80338686 | |
| pharmgkb | rs80338686 |
| gwascentral | rs80338686 |
| openSNP | rs80338686 |
| 23andMe | rs80338686 |
| SNPshot | rs80338686 |
| SNPdbe | rs80338686 |
| MSV3d | rs80338686 |
| GWAS Ctlg | rs80338686 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs80338686(A;A) rs80338686(T;T) |
| Alt | rs80338686(A;A) rs80338686(T;T) |
| Reference | Rs80338686(C;C) |
| Significance | Pathogenic |
| Disease | Biotinidase deficiency not provided |
| Variation | info |
| Gene | BTD |
| CLNDBN | Biotinidase deficiency not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.15686975C>A; NC_000003.11:g.15686975C>T |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000409281.1, RCV000001975.4, RCV000078070.3, |
[PMID 9099842] Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.
