rs13073139
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs13073139(A;A) |
| Make rs13073139(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 15644367 |
| Gene | BTD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs13073139 |
| dbSNP (classic) | rs13073139 |
| ClinGen | rs13073139 |
| ebi | rs13073139 |
| HLI | rs13073139 |
| Exac | rs13073139 |
| Gnomad | rs13073139 |
| Varsome | rs13073139 |
| LitVar | rs13073139 |
| Map | rs13073139 |
| PheGenI | rs13073139 |
| Biobank | rs13073139 |
| 1000 genomes | rs13073139 |
| hgdp | rs13073139 |
| ensembl | rs13073139 |
| geneview | rs13073139 |
| scholar | rs13073139 |
| rs13073139 | |
| pharmgkb | rs13073139 |
| gwascentral | rs13073139 |
| openSNP | rs13073139 |
| 23andMe | rs13073139 |
| SNPshot | rs13073139 |
| SNPdbe | rs13073139 |
| MSV3d | rs13073139 |
| GWAS Ctlg | rs13073139 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs13073139(A;A) |
| Alt | rs13073139(A;A) |
| Reference | Rs13073139(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.15685874G>A |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000021936.2, RCV000031859.3, RCV000078073.6, |
[PMID 18704161
] Genetic variation in an individual human exome.
[PMID 7509806] Human serum biotinidase. cDNA cloning, sequence, and characterization.
[PMID 9232193] Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
[PMID 9375914] Profound biotinidase deficiency in two asymptomatic adults.
[PMID 10206677] Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.
[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.
