rs80338901
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | Tyrosinemia type I |
| (A;G) | 3 | carrier for a tyrosinemia type I allele |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 80180230 |
| Gene | FAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338901 |
| dbSNP (classic) | rs80338901 |
| ClinGen | rs80338901 |
| ebi | rs80338901 |
| HLI | rs80338901 |
| Exac | rs80338901 |
| Gnomad | rs80338901 |
| Varsome | rs80338901 |
| LitVar | rs80338901 |
| Map | rs80338901 |
| PheGenI | rs80338901 |
| Biobank | rs80338901 |
| 1000 genomes | rs80338901 |
| hgdp | rs80338901 |
| ensembl | rs80338901 |
| geneview | rs80338901 |
| scholar | rs80338901 |
| rs80338901 | |
| pharmgkb | rs80338901 |
| gwascentral | rs80338901 |
| openSNP | rs80338901 |
| 23andMe | rs80338901 |
| SNPshot | rs80338901 |
| SNPdbe | rs80338901 |
| MSV3d | rs80338901 |
| GWAS Ctlg | rs80338901 |
| GMAF | 0.0004591 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | Rs80338901(A;A) |
| Alt | Rs80338901(A;A) |
| Reference | Rs80338901(G;G) |
| Significance | Pathogenic |
| Disease | Tyrosinemia type I not provided Hypertyrosinemia |
| Variation | info |
| Gene | FAH |
| CLNDBN | Tyrosinemia type I not provided Hypertyrosinemia |
| Reversed | 0 |
| HGVS | NC_000015.9:g.80472572G>A |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000012645.5, RCV000078135.5, RCV000329547.1, |
[PMID 7757089] Two novel mutations involved in hereditary tyrosinemia type I.
[PMID 8028615] A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
[PMID 8318997] Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
[PMID 9633815] Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
[PMID 9705236] Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.
[PMID 12203990] Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.
