Variant: rs747253294 

    present in Gene: VRK2;FANCL
    present in Chromosome: 2
    Position on Chromosome: 58161533
    Alleles of this Variant: ATA/-

rs747253294 in VRK2;FANCL gene and FANCONI ANEMIA, COMPLEMENTATION GROUP L PMID 19405097 2009 Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.

PMID 25659033 2015 FANCD2, FANCJ and BRCA2 cooperate to promote replication fork recovery independently of the Fanconi Anemia core complex.

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

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 25239263 2015 Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

rs747253294 in VRK2;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 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

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