FAH Chromosome 15
Fumarylacetoacetate hydrolase
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What This Gene Does
Predicted to enable fumarylacetoacetase activity. Predicted to be involved in L-phenylalanine catabolic process; homogentisate catabolic process; and tyrosine catabolic process. Predicted to act upstream of or within arginine catabolic process. Located in extracellular exosome. Implicated in tyrosinemia type I. [provided by Alliance of Genome Resources, Apr 2025]
Associated Conditions (17)
Tyrosinemia type I
FAH-related disorder
Familial prostate cancer
Inborn genetic diseases
Renal tubulopathies
Beta-D-mannosidosis
See cases
Tyrosinemia
Familial cancer of breast
Nonpapillary renal cell carcinoma
Tyrosinemia type II
T-substance anomaly
Thyroid cancer
nonmedullary
1
Ovarian serous cystadenocarcinoma
Thymoma
Key Variants
RS1037374579
Conflicting classifications of pathogenicity
Tyrosinemia type I, Tyrosinemia type I
Health Risk
RS1202678414
Conflicting classifications of pathogenicity
Tyrosinemia type I, Tyrosinemia type I
Health Risk
RS121965076
Conflicting classifications of pathogenicity
Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I
Health Risk
RS1342338851
Conflicting classifications of pathogenicity
Tyrosinemia type I, Tyrosinemia type I
Health Risk
RS138757552
Conflicting classifications of pathogenicity
Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
Health Risk
RS139268254
Conflicting classifications of pathogenicity
Tyrosinemia type I, Tyrosinemia type I
Health Risk
RS141827305
Conflicting classifications of pathogenicity
Tyrosinemia type I, Tyrosinemia type I
Health Risk
RS144228661
Conflicting classifications of pathogenicity
Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
Health Risk
RS144902834
Conflicting classifications of pathogenicity
Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
Health Risk
RS145389125
Conflicting classifications of pathogenicity
Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
Health Risk
RS145851627
Conflicting classifications of pathogenicity
Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
Health Risk
RS147016995
Conflicting classifications of pathogenicity
Tyrosinemia type I, Tyrosinemia type I, FAH-related disorder
Health Risk
All Variants (193)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS766882348 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS769550316 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS781496816 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS80338894 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type II, T-substance anomaly |
| RS80338895 | Health Risk | Pathogenic | Tyrosinemia type I, FAH-related disorder, Thyroid cancer |
| RS80338897 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS80338899 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS80338900 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS886044640 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I |
| RS980415517 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1057517084 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I |
| RS1171235203 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS121965073 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS121965074 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS121965077 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS121965078 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1420414848 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1567118987 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1595889891 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1595894742 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I |
| RS2041114940 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041247681 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041271232 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041271608 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041316956 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041368952 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I |
| RS2142105483 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505834785 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505834859 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505850621 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505853708 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS533540262 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS747546798 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS754444882 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS765527687 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS768180953 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS770713168 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS771712041 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS779040832 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS779642226 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS80338898 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I |
| RS80338901 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, FAH-related disorder, Inborn genetic diseases |
| RS970505762 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I, Inborn genetic diseases |