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 |
|---|---|---|---|
| RS1057516408 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I |
| RS1057516631 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I |
| RS1057516684 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1057516934 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1057517113 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1057517201 | Health Risk | Likely pathogenic | Tyrosinemia type I, Beta-D-mannosidosis, Tyrosinemia type I |
| RS1057517972 | Health Risk | Likely pathogenic | Tyrosinemia type I, See cases, Tyrosinemia |
| RS11555097 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1167783894 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1247460110 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I |
| RS1252692081 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1297118863 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I |
| RS1343211837 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1387788860 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1555440522 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1555441251 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1555441272 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1555441597 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1555441852 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1555441861 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1555442289 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I |
| RS1595890740 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I |
| RS2041065544 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041065794 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041066220 | Health Risk | Likely pathogenic | — |
| RS2041155203 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041155591 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041156486 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041210221 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041255686 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041294652 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041318487 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2142105542 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505841612 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505842572 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505844529 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505850100 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505850314 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505850316 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505850594 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505850609 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505853729 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505853906 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505855036 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505856991 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505859229 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505861241 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505861280 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505862101 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS373302756 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |