FANCL

FA complementation group L

Summary

This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018]

Known Variants525 total

rsidPosition (GRCh37)AllelesClassClinVar
rs9715890982:58,386,385T/G—uncertain significance
rs13956859172:58,386,466T/C—uncertain significance
rs9516717442:58,386,619G/C—uncertain significance
rs8666759052:58,386,735T/C—uncertain significance
rs7815565792:58,386,772C/T—uncertain significance
rs763486392:58,386,805T/C—likely benign
rs16847804702:58,386,811G/A—uncertain significance
rs5450849712:58,386,904T/G—likely benign
rs11960564442:58,386,905G/C—uncertain significance
rs7455444962:58,386,907T/C—uncertain significance
rs7548616692:58,386,910C/G—uncertain significance
rs1498031482:58,386,913C/G—likely benign
rs16848135472:58,386,919A/G—uncertain significance
rs2004123762:58,386,932T/A—uncertain significance
rs24665346522:58,386,945G/T—likely benign
rs7741304692:58,386,946A/T—conflicting classifications of pathogenicity
rs24665347882:58,386,947G/C—likely benign
rs7617048922:58,386,948A/T—uncertain significance
rs7674500552:58,386,950C/A—likely benign
rs16848226692:58,386,952T/A—likely benign
rs24665351282:58,386,953A/C—likely benign
rs37321362:58,387,000C/T—benign
rs729488152:58,387,185A/G—benign
rs3738546362:58,387,225G/T—likely benign
rs24665460822:58,387,226A/G—likely benign
rs24665461822:58,387,228T/C—likely benign
rs7781272432:58,387,229A/C—likely benign
rs13374581502:58,387,235T/C—likely benign
rs24665466552:58,387,242C/G—likely pathogenic
rs5770631142:58,387,243C/T—pathogenic
rs5444259122:58,387,247C/T—conflicting classifications of pathogenicity
rs24665471662:58,387,255T/C—likely benign
rs7488750302:58,387,257G/T—uncertain significance
rs115395752:58,387,258G/A—likely benign
rs9339130592:58,387,263C/A—likely pathogenic
rs7738690512:58,387,268A/C—uncertain significance
rs1478604332:58,387,270T/C—uncertain significance
rs16849019072:58,387,275T/C—uncertain significance
rs1452601462:58,387,283C/T—uncertain significance
rs7605421632:58,387,285C/A—uncertain significance
rs24665486052:58,387,287G/A—likely pathogenic
rs7667580362:58,387,293T/C—uncertain significance
rs9292808652:58,387,302G/A—likely benign
rs1407589862:58,387,311G/C—uncertain significance
rs15587278632:58,387,314A/T—uncertain significance
rs24665498862:58,387,316T/C—likely pathogenic
rs3770522162:58,387,320A/G—likely benign
rs24665500912:58,387,321A/G—likely benign
rs7589143852:58,387,330G/C—likely benign
rs7782520092:58,387,332T/G—likely benign
rs1156315702:58,388,319G/A—likely benign
rs7528442042:58,388,637A/C—likely benign
rs7646299262:58,388,639A/G—likely benign
rs7520265402:58,388,640A/G—likely benign
rs2017337922:58,388,642A/G—likely benign
rs24665788242:58,388,643T/C—likely benign
rs24665793292:58,388,660A/G—likely benign
rs10219792672:58,388,663T/C—likely benign
rs7472532942:58,388,668——pathogenic
rs11589382802:58,388,672T/C—likely benign
rs7773783522:58,388,684T/C—likely benign
rs7469675982:58,388,685T/G—uncertain significance
rs14039262802:58,388,693C/A—uncertain significance
rs8482912:58,388,696A/G—benign
rs12262746662:58,388,697G/A—uncertain significance
rs16851757222:58,388,703T/A—uncertain significance
rs16851763622:58,388,706C/G—uncertain significance
rs2008196152:58,388,708C/T—conflicting classifications of pathogenicity
rs7630573922:58,388,710C/A—uncertain significance
rs16851773092:58,388,712T/C—uncertain significance
rs7641864112:58,388,713G/A—likely pathogenic
rs1400881492:58,388,714A/T—conflicting classifications of pathogenicity
rs7622387362:58,388,722T/G—uncertain significance
rs7680006722:58,388,723G/A—likely benign
rs14717386862:58,388,724G/A—uncertain significance
rs7508198812:58,388,726A/C—likely benign
rs21047832622:58,388,727C/A—uncertain significance
rs10605018962:58,388,728C/T—uncertain significance
rs14092563642:58,388,729G/A—likely benign
rs11633494622:58,388,735T/C—likely benign
rs7650227402:58,388,737G/A—pathogenic
rs14468701752:58,388,741A/C—likely benign
rs21047835592:58,388,743C/A—uncertain significance
rs14234117612:58,388,744A/T—pathogenic
rs13032346682:58,388,753T/A—likely benign
rs21047836762:58,388,754C/T—uncertain significance
rs9598570562:58,388,756A/G—likely benign
rs10605043762:58,388,759A/G—likely benign
rs7524297632:58,388,763A/G—uncertain significance
rs5537427342:58,388,764T/C—uncertain significance
rs7464547712:58,388,766G/A—uncertain significance
rs24665838982:58,388,769A/C—uncertain significance
rs21047838882:58,388,774C/T—likely pathogenic
rs7572115312:58,388,777C/A—conflicting classifications of pathogenicity
rs21047839672:58,388,780A/C—likely benign
rs21047840172:58,388,781A/C—likely benign
rs3756727712:58,388,787A/G—likely benign
rs3777252502:58,388,792T/C—likely benign
rs24665846172:58,388,793A/T—likely benign
rs1469410752:58,389,007T/A—likely benign

Showing 100 of 525 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.