ABHD16A

abhydrolase domain containing 16A, phospholipase

Summary

A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

Known Variants50 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13442294596:31,655,030G/A—uncertain significance
rs1462006406:31,655,295G/A—uncertain significance
rs14292214446:31,655,437C/T—uncertain significance
rs13924482376:31,655,464G/A—uncertain significance
rs14602904776:31,655,500A/G—uncertain significance
rs1396501386:31,655,512T/C—likely benign
rs3703706226:31,655,521G/C—uncertain significance
rs2015029426:31,655,667C/G—uncertain significance
rs7742599106:31,655,818C/T—pathogenic
rs5479196756:31,655,854C/T—uncertain significance
rs14521474006:31,655,855G/A—conflicting classifications of pathogenicity
rs755091516:31,656,514C/T—benign
rs1478306316:31,656,517G/A—likely benign
rs21512229516:31,656,524A/C—uncertain significance
rs25370541746:31,656,804G/A—uncertain significance
rs7602946:31,657,701C/Aregulatory region variant—
rs7079176:31,657,754C/T——
rs21512310966:31,659,364G/A—pathogenic
rs18038875186:31,659,444C/T—uncertain significance
rs12338851286:31,659,448G/A—uncertain significance
rs1438909496:31,659,667G/A—uncertain significance
rs7492738356:31,659,670G/A—uncertain significance
rs1486051416:31,659,683C/T—likely benign
rs2018654966:31,660,862G/A—likely benign
rs1396679356:31,660,879C/A—likely benign
rs9234437986:31,660,891A/G—uncertain significance
rs3773150806:31,660,898G/A—likely benign
rs3709516286:31,660,907G/A—uncertain significance
rs7487298996:31,661,178C/T—uncertain significance
rs13203486396:31,661,180G/T—uncertain significance
rs7589175226:31,664,747C/T—uncertain significance
rs1452690026:31,664,748G/A—uncertain significance
rs1398138796:31,664,780C/T—uncertain significance
rs7461461866:31,664,781G/A—uncertain significance
rs18044661966:31,664,792T/A—uncertain significance
rs1497908456:31,664,801C/T—uncertain significance
rs7731537736:31,664,802G/A—uncertain significance
rs92675396:31,666,424A/T——
rs92675426:31,668,049C/Tdownstream gene variant—
rs21512567996:31,668,722G/A—pathogenic
rs3697266716:31,668,802T/C—uncertain significance
rs25371249236:31,669,074G/A—uncertain significance
rs7754532766:31,670,959T/C—likely benign
rs3774418246:31,670,974C/G—likely benign
rs1457171446:31,670,982G/A—uncertain significance
rs3774528716:31,670,988C/G—uncertain significance
rs25371415256:31,671,037C/T—uncertain significance
rs21512634916:31,671,040A/G—uncertain significance
rs92675446:31,671,557C/Aregulatory region variant—
rs283661576:31,672,242A/Gupstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.