Gene entry
FH
fumarate hydratase
- Chromosome
- 1
- Cytoband
- 1q43
- Variants (rsID)
- 28
FH is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q43). Its official name is “fumarate hydratase”. The reference table lists 28 variants (rsID) for this gene.
Clinically classified variants
24 reference-table entries with clinical significance.
- rs199822819Conflicting interpretationssingle nucleotide variantFumarase deficiency|Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome
- rs200542051Conflicting interpretationssingle nucleotide variantFumarase deficiency|Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome
- rs200796606Conflicting interpretationssingle nucleotide variantFumarase deficiency|Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer|Hepatocellular carcinoma
- rs201395553Conflicting interpretationssingle nucleotide variantHereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome|Fumarase deficiency
- rs201486221Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency
- rs201532589Conflicting interpretationssingle nucleotide variantFumarase deficiency|Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer
- rs369802820Conflicting interpretationssingle nucleotide variantFumarase deficiency|Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome
- rs74405673Conflicting interpretationssingle nucleotide variantFumarase deficiency|Hereditary leiomyomatosis and renal cell cancer
- rs1060499629PathogenicDeletionHereditary leiomyomatosis and renal cell cancer|Fumarase deficiency
- rs121913120Pathogenicsingle nucleotide variantHereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome|Fumarase deficiency
- rs121913121Pathogenicsingle nucleotide variantHereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome|Fumarase deficiency
- rs121913122Pathogenicsingle nucleotide variantHereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome|Fumarase deficiency
- rs372505976Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Fumarase deficiency
- rs398123159Pathogenicsingle nucleotide variantFumarase deficiency|Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer
- rs398123160Pathogenicsingle nucleotide variantHereditary leiomyomatosis and renal cell cancer
- rs398123166Pathogenicsingle nucleotide variantHereditary leiomyomatosis and renal cell cancer|Fumarase deficiency|Hereditary cancer-predisposing syndrome
- rs756469140PathogenicDeletionHereditary leiomyomatosis and renal cell cancer|Fumarase deficiency|Hereditary cancer-predisposing syndrome
- rs794727836PathogenicDeletionHereditary leiomyomatosis and renal cell cancer|Fumarase deficiency|Hereditary cancer-predisposing syndrome
- rs863223980Pathogenicsingle nucleotide variantHereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome|Fumarase deficiency
- rs863224007Pathogenicsingle nucleotide variantFumarase deficiency|Hereditary leiomyomatosis and renal cell cancer
- rs863224010Pathogenicsingle nucleotide variantHereditary leiomyomatosis and renal cell cancer|Fumarase deficiency
- rs876658569PathogenicDeletionHereditary cancer-predisposing syndrome|Fumarase deficiency
- rs886039368Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer
- rs772190176Uncertain significancesingle nucleotide variantFumarase deficiency|Hereditary cancer-predisposing syndrome
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.