Variant: rs1205006300 

    present in Gene: FANCL
    present in Chromosome: 2
    Position on Chromosome: 58229813
    Alleles of this Variant: C/A

rs1205006300 in FANCL gene and Fanconi Anemia PMID 19405097 2009 Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.

PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.