FANCI

FA complementation group I

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 I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants1,612 total

rsidPosition (GRCh37)AllelesClassClinVar
rs55971471315:89,787,194T/C—uncertain significance
rs88605150515:89,787,212C/G—uncertain significance
rs37417763915:89,787,228T/C—uncertain significance
rs88605150615:89,787,261G/A—uncertain significance
rs7347535615:89,790,711G/A—benign
rs37207689515:89,790,869A/G—uncertain significance
rs54327015015:89,790,877C/A—likely benign
rs78124992815:89,790,879A/G—uncertain significance
rs205204825815:89,790,880T/C—pathogenic
rs215105438115:89,790,882G/T—uncertain significance
rs215105441315:89,790,883A/T—uncertain significance
rs37493231415:89,790,886A/G—uncertain significance
rs250539925415:89,790,887G/C—uncertain significance
rs122282406515:89,790,890G/C—uncertain significance
rs20018693815:89,790,891A/G—uncertain significance
rs74801857415:89,790,894T/G—uncertain significance
rs36926872615:89,790,895T/C—uncertain significance
rs134411971615:89,790,896A/G—likely benign
rs77295409615:89,790,900C/G—uncertain significance
rs74667341415:89,790,902A/G—likely benign
rs77049998815:89,790,903G/A—uncertain significance
rs156713444215:89,790,910A/G—uncertain significance
rs87885418015:89,790,911A/G—likely benign
rs20198137315:89,790,917A/T—likely benign
rs205204994315:89,790,918G/A—uncertain significance
rs76581187415:89,790,923C/G—uncertain significance
rs77589159215:89,790,928T/G—uncertain significance
rs135251047815:89,790,929G/T—likely benign
rs205205050915:89,790,931A/G—uncertain significance
rs144110618515:89,790,946C/G—uncertain significance
rs128441535915:89,790,947C/T—likely benign
rs250540179615:89,790,948C/T—likely benign
rs106050190215:89,790,961A/G—uncertain significance
rs215105560215:89,790,969A/T—likely benign
rs250540344415:89,790,975A/C—likely benign
rs205205202115:89,790,978C/T—likely benign
rs250540371215:89,790,979A/G—likely benign
rs215105577615:89,790,981G/A—likely benign
rs2863520615:89,791,076G/A—likely benign
rs2845761415:89,791,093A/G—likely benign
rs2855155415:89,791,112A/G—likely benign
rs15062483515:89,791,197A/C—likely benign
rs1290082515:89,801,677G/C—benign
rs6102415415:89,801,721A/G—benign
rs716701715:89,801,729A/G—benign
rs105244610615:89,801,916C/G—likely benign
rs77771683715:89,801,922T/C—likely benign
rs250581301415:89,801,925T/C—likely benign
rs139836539615:89,801,927C/G—likely benign
rs13831376015:89,801,933A/G—likely pathogenic
rs119535020215:89,801,934G/A—likely pathogenic
rs19971355515:89,801,939C/T—uncertain significance
rs215121966615:89,801,941A/G—uncertain significance
rs74534167315:89,801,942A/G—uncertain significance
rs155544216215:89,801,943T/G—uncertain significance
rs143252453215:89,801,950C/G—uncertain significance
rs117262136715:89,801,953A/G—uncertain significance
rs250581396115:89,801,956C/A—uncertain significance
rs76920929715:89,801,964G/A—likely benign
rs132522167015:89,801,973A/G—likely benign
rs135735603915:89,801,976T/C—likely benign
rs123806872515:89,802,000C/T—likely benign
rs123243777815:89,802,003C/G—uncertain significance
rs250581478115:89,802,008G/A—likely pathogenic
rs14516573015:89,802,014A/G—conflicting classifications of pathogenicity
rs250581532915:89,802,021A/G—likely benign
rs205260104515:89,802,023G/C—likely benign
rs250581553215:89,802,026A/T—likely benign
rs96333966715:89,802,085G/A—pathogenic
rs7403142515:89,803,731G/A—benign
rs1185804615:89,803,823G/A—benign
rs7346667415:89,803,902G/T—benign
rs125094245615:89,803,924C/T—likely benign
rs76235000315:89,803,925C/A—likely benign
rs142054376215:89,803,926C/T—likely benign
rs74977777015:89,803,928T/C—likely benign
rs76919812615:89,803,929G/C—likely benign
rs250587718015:89,803,935A/T—likely benign
rs77466990215:89,803,939A/G—uncertain significance
rs76212814715:89,803,942A/Gsplice region variantpathogenic
rs14922343915:89,803,944G/C—conflicting classifications of pathogenicity
rs76647741515:89,803,949C/T—uncertain significance
rs6202034715:89,803,950T/C—benign
rs13903988515:89,803,951C/T—likely benign
rs250587812015:89,803,962A/T—uncertain significance
rs75701847015:89,803,965C/G—uncertain significance
rs215125278915:89,803,966T/C—likely benign
rs78085398415:89,803,968G/A—uncertain significance
rs148148368915:89,803,969A/G—likely benign
rs14310509215:89,803,982C/T—uncertain significance
rs77951503915:89,803,983G/A—uncertain significance
rs95726043915:89,803,984T/C—likely benign
rs74883457615:89,803,985A/G—uncertain significance
rs250587882615:89,803,988A/G—uncertain significance
rs205267988615:89,803,990A/G—uncertain significance
rs36766814615:89,803,991T/C—uncertain significance
rs141499571115:89,803,992A/G—uncertain significance
rs147453762915:89,803,993C/T—likely benign
rs250587898815:89,803,994A/G—uncertain significance
rs20179628115:89,803,995C/T—uncertain significance

Showing 100 of 1,612 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.