FH Chromosome 1

Fumarate hydratase
544 variants 544 Health Risk

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What This Gene Does
The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]
Associated Conditions (18)
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
FH-related disorder
Ovarian cancer
Microcephaly
Hepatocellular carcinoma
Colon adenocarcinoma
Inherited renal cancer
Ovarian serous cystadenocarcinoma
Hereditary cancer
Familial cancer of breast
Cutaneous leiomyoma
Inherited phaeochromocytoma and paraganglioma excluding NF1
Uterine corpus endometrial carcinoma
See cases
Spinocerebellar ataxia 45
Uterine leiomyoma
Key Variants
RS1031919395
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Fumarase deficiency, Hereditary cancer-predisposing syndrome
Health Risk
RS1038324354
Conflicting classifications of pathogenicity
Fumarase deficiency, Hereditary cancer-predisposing syndrome, Fumarase deficiency
Health Risk
RS1057517735
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057521425
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
Health Risk
RS1060499627
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060499636
Conflicting classifications of pathogenicity
Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
Health Risk
RS1060499638
Conflicting classifications of pathogenicity
Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
Health Risk
RS1060499640
Conflicting classifications of pathogenicity
Hereditary leiomyomatosis and renal cell cancer, FH-related disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1060500892
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
Health Risk
RS1060500897
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
Health Risk
RS1060500902
Conflicting classifications of pathogenicity
Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
Health Risk
RS1060504079
Conflicting classifications of pathogenicity
Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
Health Risk
All Variants (544)
RSID Category Clinical Significance Conditions
RS1031919395 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1038324354 Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1057517735 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057521425 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS1060499627 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060499636 Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1060499638 Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS1060499640 Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, FH-related disorder, Hereditary cancer-predisposing syndrome
RS1060500892 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS1060500897 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS1060500902 Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS1060504079 Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS1064793126 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793741 Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS112335468 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency, FH-related disorder
RS1131691250 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS11545654 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS11545656 Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1158759883 Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Fumarase deficiency
RS1178007598 Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Fumarase deficiency
RS1213056420 Health Risk Conflicting classifications of pathogenicity —
RS1228511377 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1258289679 Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS1291740270 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1298815479 Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1319755767 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1338650106 Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Fumarase deficiency
RS1343775223 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1352808353 Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1395036789 Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS139642944 Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1398860901 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1413797947 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS144131869 Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS145116688 Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1455198803 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS145843819 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS146739519 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1472397242 Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS147528200 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS1553340717 Health Risk Conflicting classifications of pathogenicity —
RS1553340880 Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1553340891 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553341017 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553341032 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS1553341583 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553341989 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS1553342167 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1558396285 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS1558397757 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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