Variant: rs1057516430 

    present in Gene: FANCA
    present in Chromosome: 16
    Position on Chromosome: 89811060
    Alleles of this Variant: G/A

rs1057516430 in FANCA gene and FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) PMID 15522956 2005 DNA sequencing of the FANCA gene in 8 unrelated Spanish Gypsy FA families after retroviral subtyping revealed a homozygous FANCA mutation (295C>T) leading to FANCA truncation and FA pathway disruption.