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/Tuncertain significance
rs148225843516:69,985,310T/Cuncertain significance
rs140345884816:69,985,318C/Tuncertain significance
rs90508863416:69,985,319T/Auncertain significance
rs20189299016:69,985,340C/Tuncertain significance
rs148631842616:69,985,350G/Cuncertain significance
rs254863311116:69,985,355G/Tuncertain significance
rs205894683416:69,985,366C/Auncertain significance
rs75277195516:69,985,379C/Tuncertain significance
rs53762401016:69,985,390G/Alikely benign
rs141160341916:69,985,953A/Guncertain significance
rs79646665016:69,985,983G/Auncertain significance
rs129264790916:69,985,989G/Auncertain significance
rs129902449516:69,986,006C/Tuncertain significance
rs117825469216:69,986,020G/Auncertain significance
rs205896033716:69,986,026G/Tuncertain significance
rs7139799816:69,987,751G/C
rs76665154016:69,988,328C/Tuncertain significance
rs75895329116:69,988,351C/Auncertain significance
rs254909516:69,988,359A/Tsynonymous variant
rs134029100716:69,988,361C/Guncertain significance
rs53313648216:69,988,418G/Alikely benign
rs76332228316:69,988,436G/Tuncertain significance
rs254863767716:69,988,439A/Tuncertain significance
rs136913900816:69,988,445C/Tuncertain significance
rs76614910716:69,988,453G/Auncertain significance
rs254863775716:69,988,462A/Guncertain significance
rs6205335416:69,992,909C/Tlikely benign
rs20074592316:69,992,941A/Glikely benign
rs75303590516:69,996,935G/Cuncertain significance
rs57294645516:69,996,947G/Auncertain significance
rs78070512816:69,996,958A/Cuncertain significance
rs1107574816:69,998,573G/T

Gene information from NCBI Gene. Variant classifications from ClinVar.