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 |
|---|---|---|---|
| RS747300179 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS757682374 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS772895065 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I |
| RS773450608 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I |
| RS778387055 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS786204551 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS786204683 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I |
| RS80338896 | Health Risk | Likely pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1057516679 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1057517341 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1057517436 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1193030161 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS121965075 | Health Risk | Pathogenic | Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I |
| RS1268482591 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1315840625 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS149052294 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I |
| RS1555440603 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1555441595 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1555441703 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1555442385 | Health Risk | Pathogenic | Tyrosinemia type I, Familial cancer of breast, Tyrosinemia type I |
| RS1595897321 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS1595897345 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041065908 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041131954 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041138762 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041210282 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041254879 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2041326700 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2142090708 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2142090831 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2142097906 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2142101007 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2142101046 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2142101647 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2142103306 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2142105509 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2142107894 | Health Risk | Pathogenic | Tyrosinemia type I, Nonpapillary renal cell carcinoma, Tyrosinemia type I |
| RS2142112670 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505842582 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505844477 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505844514 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505855047 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505856822 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505856831 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505859174 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505861322 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS2505861359 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS370686447 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS750741137 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |
| RS765134063 | Health Risk | Pathogenic | Tyrosinemia type I, Tyrosinemia type I |