FANCA

FA complementation group A

Summary

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]

Known Variants3,379 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605247716:89,803,997T/C—uncertain significance
rs1722745216:89,803,998G/A—benign
rs1696602316:89,804,023C/T—benign
rs5579450716:89,804,072T/C—uncertain significance
rs88605247816:89,804,158C/T—uncertain significance
rs20131623916:89,804,166G/A—uncertain significance
rs18605093316:89,804,190A/G—uncertain significance
rs1723383316:89,804,330A/C—benign
rs6270456116:89,804,336T/C—benign
rs1723381916:89,804,337C/G—uncertain significance
rs1723381216:89,804,339C/A—benign
rs1722743816:89,804,355G/A—likely benign
rs77909466116:89,804,384G/A—uncertain significance
rs14464459216:89,804,488G/A—uncertain significance
rs1722742416:89,804,624G/C—benign
rs20181770516:89,804,692C/T—uncertain significance
rs1722741716:89,804,722C/T—benign
rs1723380416:89,804,723G/A—benign
rs1723379716:89,804,757C/G—benign
rs55731951616:89,804,759C/T—uncertain significance
rs57714912116:89,804,837C/T—uncertain significance
rs88605247916:89,804,843C/T—uncertain significance
rs123016:89,804,855C/T—benign
rs55632525816:89,804,863G/A—uncertain significance
rs57560693816:89,804,865C/G—uncertain significance
rs77554901816:89,804,871A/T—uncertain significance
rs5567921716:89,804,900G/A—uncertain significance
rs5585924416:89,804,905C/T—uncertain significance
rs52974880416:89,804,967T/A—uncertain significance
rs145806137416:89,805,002G/A—uncertain significance
rs37035719216:89,805,008G/A—uncertain significance
rs144001385516:89,805,012G/A—likely benign
rs215170962016:89,805,015G/A—likely benign
rs215170962816:89,805,016A/G—uncertain significance
rs133864753216:89,805,020G/A—uncertain significance
rs89755783016:89,805,022G/C—uncertain significance
rs148957474016:89,805,023G/A—uncertain significance
rs104324154116:89,805,026C/G—uncertain significance
rs74931554016:89,805,027C/T—likely benign
rs75754900716:89,805,028T/C—uncertain significance
rs215170967716:89,805,030G/T—likely benign
rs77923665116:89,805,031G/C—uncertain significance
rs122315493716:89,805,034A/C—uncertain significance
rs156759092516:89,805,035G/A—likely benign
rs254407274916:89,805,036G/A—likely benign
rs74625646616:89,805,039A/G—likely benign
rs206202909416:89,805,040G/A—uncertain significance
rs77250572516:89,805,041C/T—uncertain significance
rs37483055516:89,805,042G/C—uncertain significance
rs76902563316:89,805,044C/T—uncertain significance
rs14953169616:89,805,045A/C—likely benign
rs1723378316:89,805,047G/C—uncertain significance
rs37122841916:89,805,048G/A—likely benign
rs215170973016:89,805,049G/A—uncertain significance
rs155553271616:89,805,051A/G—likely benign
rs14417122516:89,805,052G/C—conflicting classifications of pathogenicity
rs93744396616:89,805,056G/A—uncertain significance
rs76723477416:89,805,059G/A—uncertain significance
rs206202984316:89,805,060T/C—likely benign
rs58777832216:89,805,061C/G—uncertain significance
rs117649994016:89,805,063G/A—likely benign
rs215170979116:89,805,064C/T—uncertain significance
rs254407304616:89,805,066C/T—likely benign
rs76072287716:89,805,068G/A—uncertain significance
rs19993797316:89,805,069G/A—likely benign
rs215170981216:89,805,070A/T—uncertain significance
rs7497720116:89,805,074C/T—conflicting classifications of pathogenicity
rs14278442616:89,805,075G/A—conflicting classifications of pathogenicity
rs104766211116:89,805,076G/A—uncertain significance
rs37498458716:89,805,077C/T—conflicting classifications of pathogenicity
rs56829345116:89,805,078G/C—uncertain significance
rs74731027616:89,805,079C/T—uncertain significance
rs215170984816:89,805,081C/T—likely benign
rs159804882416:89,805,082A/C—uncertain significance
rs76924335416:89,805,083C/A—conflicting classifications of pathogenicity
rs123588179016:89,805,084C/G—uncertain significance
rs156759112516:89,805,086C/G—uncertain significance
rs206203105716:89,805,089G/C—uncertain significance
rs215170988616:89,805,090G/A—likely benign
rs74885676916:89,805,092C/A—likely pathogenic
rs36763082516:89,805,093G/A—likely benign
rs206203127416:89,805,094C/G—uncertain significance
rs159804889816:89,805,096G/A—likely benign
rs215170992216:89,805,099C/T—likely benign
rs135076875816:89,805,100C/A—uncertain significance
rs254407345216:89,805,101C/G—uncertain significance
rs14740637716:89,805,103C/T—uncertain significance
rs58777832116:89,805,104G/A—uncertain significance
rs215170995616:89,805,105A/G—likely benign
rs76411370716:89,805,108A/G—likely benign
rs75366023616:89,805,113G/T—uncertain significance
rs206203196616:89,805,116G/A—likely benign
rs91598360216:89,805,118T/G—pathogenic
rs76547899016:89,805,119G/C—pathogenic
rs206203215516:89,805,120T/A—likely benign
rs215171001516:89,805,121G/A—likely benign
rs156759124316:89,805,123G/C—uncertain significance
rs37226890716:89,805,124A/C—conflicting classifications of pathogenicity
rs36850682616:89,805,125G/C—conflicting classifications of pathogenicity
rs215171005516:89,805,126A/G—likely benign

Showing 100 of 3,379 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.