Variant: rs1555533300

present in Gene: FANCA;ZNF276 present in Chromosome: 16 Position on Chromosome: 89739220 Alleles of this Variant: C/T

rs1555533300 in FANCA;ZNF276 gene and FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

PMID 9371798 1997 Sequence variation in the Fanconi anemia gene FAA.

PMID 10521298 1999 High frequency of large intragenic deletions in the Fanconi anemia group A gene.

PMID 11091222 2000 Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

PMID 9399890 1997 Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.

PMID 10094191 1999 Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

PMID 9929978 1999 Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.

PMID 10210316 1999 A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.

PMID 10807541 2000 Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.