CLEC18A

C-type lectin domain family 18 member A

Summary

This is one of three closely related paralogous genes on chromosome 16 encoding secreted proteins containing C-type lectin domains. These domains bind to carbohydrates in the presence of calcium, and may be involved in cell adhesion, immune response and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]

Known Variants36 total

rsidPosition (GRCh37)AllelesClassClinVar
rs498546416:69,978,687T/A——
rs7424922916:69,979,271C/Tdownstream gene variant—
rs265052216:69,980,886A/G——
rs76830113516:69,985,303C/T—uncertain significance
rs148225843516:69,985,310T/C—uncertain significance
rs140345884816:69,985,318C/T—uncertain significance
rs90508863416:69,985,319T/A—uncertain significance
rs20189299016:69,985,340C/T—uncertain significance
rs148631842616:69,985,350G/C—uncertain significance
rs254863311116:69,985,355G/T—uncertain significance
rs205894683416:69,985,366C/A—uncertain significance
rs75277195516:69,985,379C/T—uncertain significance
rs53762401016:69,985,390G/A—likely benign
rs141160341916:69,985,953A/G—uncertain significance
rs79646665016:69,985,983G/A—uncertain significance
rs129264790916:69,985,989G/A—uncertain significance
rs129902449516:69,986,006C/T—uncertain significance
rs117825469216:69,986,020G/A—uncertain significance
rs205896033716:69,986,026G/T—uncertain significance
rs7139799816:69,987,751G/C——
rs76665154016:69,988,328C/T—uncertain significance
rs75895329116:69,988,351C/A—uncertain significance
rs254909516:69,988,359A/Tsynonymous variant—
rs134029100716:69,988,361C/G—uncertain significance
rs53313648216:69,988,418G/A—likely benign
rs76332228316:69,988,436G/T—uncertain significance
rs254863767716:69,988,439A/T—uncertain significance
rs136913900816:69,988,445C/T—uncertain significance
rs76614910716:69,988,453G/A—uncertain significance
rs254863775716:69,988,462A/G—uncertain significance
rs6205335416:69,992,909C/T—likely benign
rs20074592316:69,992,941A/G—likely benign
rs75303590516:69,996,935G/C—uncertain significance
rs57294645516:69,996,947G/A—uncertain significance
rs78070512816:69,996,958A/C—uncertain significance
rs1107574816:69,998,573G/T——

Gene information from NCBI Gene. Variant classifications from ClinVar.