rs80338895
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | carrier for a tyrosinemia type I allele |
| (T;T) | 5 | Tyrosinemia type I |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 80168263 |
| Gene | FAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338895 |
| dbSNP (classic) | rs80338895 |
| ClinGen | rs80338895 |
| ebi | rs80338895 |
| HLI | rs80338895 |
| Exac | rs80338895 |
| Gnomad | rs80338895 |
| Varsome | rs80338895 |
| LitVar | rs80338895 |
| Map | rs80338895 |
| PheGenI | rs80338895 |
| Biobank | rs80338895 |
| 1000 genomes | rs80338895 |
| hgdp | rs80338895 |
| ensembl | rs80338895 |
| geneview | rs80338895 |
| scholar | rs80338895 |
| rs80338895 | |
| pharmgkb | rs80338895 |
| gwascentral | rs80338895 |
| openSNP | rs80338895 |
| 23andMe | rs80338895 |
| SNPshot | rs80338895 |
| SNPdbe | rs80338895 |
| MSV3d | rs80338895 |
| GWAS Ctlg | rs80338895 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | Rs80338895(T;T) |
| Alt | Rs80338895(T;T) |
| Reference | Rs80338895(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.80460605G>T |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000012649.3, RCV000078138.4, RCV000262478.1, |
[PMID 8829657] Fumarylacetoacetase mutations in tyrosinaemia type I.
[PMID 9633815] Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
[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.
