{{Rsnum
|rsid=7190823
|Gene=FANCA
|Chromosome=16
|position=89799635
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.3425
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=FANCA
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 18.6 | 46.0 | 35.4
| HCB | 96.4 | 3.6 | 0.0
| JPT | 96.5 | 3.5 | 0.0
| YRI | 69.4 | 29.3 | 1.4
| ASW | 52.6 | 33.3 | 14.0
| CHB | 96.4 | 3.6 | 0.0
| CHD | 98.2 | 1.8 | 0.0
| GIH | 44.6 | 46.5 | 8.9
| LWK | 47.3 | 42.7 | 10.0
| MEX | 37.9 | 48.3 | 13.8
| MKK | 39.1 | 49.4 | 11.5
| TSI | 6.9 | 45.1 | 48.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=7190823
|allele=C
|frequency=0.441
|uid=1103645553566
|type=homozygous_SNP
|hugo=FANCA
|ensembl gene=ENSG00000187741
|ensembl transcript=ENST00000305699
|sift=TOLERATED
|disease=Defects in FANCA are a cause of Fanconi anemia (FA) (MIM:227650). FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopaenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair.
}}

{{PMID Auto
|PMID=20386703
|Title=Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.
|OA=1
}}

{{GET Evidence
|gene=FANCA
|aa_change=Thr266Ala
|aa_change_short=T266A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7190823
|overall_frequency_n=5464
|overall_frequency_d=10758
|overall_frequency=0.507901
|n_genomes=46
|n_genomes_annotated=0
|n_haplomes=71
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.778
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=10
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}