Gene entry
FAH
fumarylacetoacetate hydrolase
- Chromosome
- 15
- Cytoband
- 15q25.1
- Variants (rsID)
- 25
FAH is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q25.1). Its official name is “fumarylacetoacetate hydrolase”. The reference table lists 25 variants (rsID) for this gene.
Clinically classified variants
15 reference-table entries with clinical significance.
- rs11555096Benignsingle nucleotide variantFumarylacetoacetase pseudodeficiency|Tyrosinemia type I
- rs142522569Benignsingle nucleotide variantTyrosinemia type I
- rs36122289Conflicting interpretationssingle nucleotide variantTyrosinemia type I
- rs144228661Likely benignsingle nucleotide variantTyrosinemia type I
- rs121965073Pathogenicsingle nucleotide variantTyrosinemia type I
- rs121965075Pathogenicsingle nucleotide variantTyrosinemia type I
- rs149052294Pathogenicsingle nucleotide variantTyrosinemia type I
- rs370686447Pathogenicsingle nucleotide variantTyrosinemia type I
- rs80338894Pathogenicsingle nucleotide variantTyrosinemia type I
- rs80338895Pathogenicsingle nucleotide variantTyrosinemia type I
- rs80338898Pathogenicsingle nucleotide variantTyrosinemia type I
- rs80338899Pathogenicsingle nucleotide variantTyrosinemia type I
- rs80338900Pathogenicsingle nucleotide variantTyrosinemia type I
- rs80338901Pathogenicsingle nucleotide variantTyrosinemia type I
- rs80338897Not classifiedsingle nucleotide variantTyrosinemia type I
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.