FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906546
rs387906546
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C1708350
Disease:
Hereditary Leiomyomatosis and Renal Cell Cancer 		0.010 GeneticVariation BEFREE In addition to the HLRCC case with the N64T germline FH mutation, we identified one other LCT with a previously unreported FH mutation (M411I). 16757530 2006