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

Gene information from NCBI Gene. Variant classifications from ClinVar.