rs13078881
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 6.7 | Biotinidase deficiency; note ability to treat & variable penetrance |
| (C;G) | 3 | Carrier of a biotinidase deficiency mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 15645186 |
| Gene | BTD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs13078881 |
| dbSNP (classic) | rs13078881 |
| ClinGen | rs13078881 |
| ebi | rs13078881 |
| HLI | rs13078881 |
| Exac | rs13078881 |
| Gnomad | rs13078881 |
| Varsome | rs13078881 |
| LitVar | rs13078881 |
| Map | rs13078881 |
| PheGenI | rs13078881 |
| Biobank | rs13078881 |
| 1000 genomes | rs13078881 |
| hgdp | rs13078881 |
| ensembl | rs13078881 |
| geneview | rs13078881 |
| scholar | rs13078881 |
| rs13078881 | |
| pharmgkb | rs13078881 |
| gwascentral | rs13078881 |
| openSNP | rs13078881 |
| 23andMe | rs13078881 |
| SNPshot | rs13078881 |
| SNPdbe | rs13078881 |
| MSV3d | rs13078881 |
| GWAS Ctlg | rs13078881 |
| GMAF | 0.01882 |
| Max Magnitude | 6.7 |
rs13078881, also known as c.1330G>C, p.Asp444His and D444H, represents a mutation in the BTD gene on chromosome 3.
Inherited recessively, the rs13078881(C) allele is considered by ClinVar (and BabySeq) as a pathogenic mutation for biotinidase deficiency. However, it appears as if the D444H mutation results in 48% of normal enzyme activity, and if found in combination with a BTD gene mutation associated with profound deficiency, may result in partial biotinidase deficiency.[PMID 9654207]
Note that this condition is treatable; children with biotinidase deficiency identified early enough should remain asymptomatic if biotin therapy is instituted early.
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs13078881(C;C) |
| Alt | Rs13078881(C;C) |
| Reference | Rs13078881(G;G) |
| Significance | Pathogenic |
| Disease | Biotinidase deficiency not provided |
| Variation | info |
| Gene | BTD |
| CLNDBN | Biotinidase deficiency not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.15686693G>C |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001977.6, RCV000001981.3, RCV000021912.1, RCV000021933.1, RCV000021936.2, RCV000021952.1, RCV000078064.6, |
[PMID 9375914] Profound biotinidase deficiency in two asymptomatic adults.
[PMID 9654207] Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
[PMID 10400129] Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.
