present in Gene: FANCM
present in Chromosome: 14
Position on Chromosome: 45189123
Alleles of this Variant: C/T
rs147021911 in
FANCM gene and
Fanconi Anemia
PMID 26740942 2015 Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
PMID 27542569 2016 FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome.
PMID 19423727 2009 Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.
PMID 25288723 2014 Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.
PMID 25078778 2014 Distribution and medical impact of loss-of-function variants in the Finnish founder population.
PMID 16116422 2005 A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.