Variant: rs121913119 

    present in Gene: FH
    present in Chromosome: 1
    Position on Chromosome: 241504066
    Alleles of this Variant: C/G

rs121913119 in FH gene and Hereditary Leiomyomatosis and Renal Cell Cancer PMID 26237645 2015 Local generation of fumarate promotes DNA repair through inhibition of histone H3 demethylation.

PMID 11865300 2002 Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

PMID 8200987 1994 Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.