HACD1

3-hydroxyacyl-CoA dehydratase 1

Summary

The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]

Known Variants136 total

rsidPosition (GRCh37)AllelesClassClinVar
rs55688841210:17,632,377C/G—uncertain significance
rs36892487910:17,632,386C/G—uncertain significance
rs54193772110:17,632,393A/G—likely benign
rs155481546710:17,632,404T/C—uncertain significance
rs155481547210:17,632,421A/G—uncertain significance
rs155481547410:17,632,422T/C—uncertain significance
rs78226386610:17,632,430T/C—uncertain significance
rs56584228710:17,632,437G/A—uncertain significance
rs249384147110:17,632,446C/A—pathogenic
rs155481547910:17,632,447T/C—uncertain significance
rs147639921010:17,632,449C/T—likely benign
rs155481548110:17,632,451T/C—uncertain significance
rs235728510:17,632,562T/C—benign
rs56951660410:17,635,087T/C——
rs381747210:17,636,085G/A—benign
rs227214410:17,636,182G/C—benign
rs155481580410:17,636,184A/G—likely benign
rs78180718310:17,636,189T/C—likely benign
rs78252090710:17,636,224G/T—uncertain significance
rs14679131210:17,636,242T/C—likely benign
rs60623125710:17,636,244G/T—pathogenic
rs1714138610:17,636,247G/A—benign
rs78226871710:17,636,273G/C—uncertain significance
rs20034528410:17,636,282T/C—uncertain significance
rs86898556910:17,636,283T/C—likely benign
rs53695273810:17,636,294C/T—likely benign
rs213150354810:17,636,305A/T—uncertain significance
rs105392610:17,636,309G/A—benign
rs5595154210:17,636,310C/T—benign
rs78281065010:17,636,311G/A—uncertain significance
rs78211502510:17,636,321C/T—uncertain significance
rs78277032610:17,636,322G/A—likely benign
rs249384925510:17,636,329G/A—uncertain significance
rs78267403110:17,636,331A/C—likely benign
rs249384927110:17,636,334A/C—likely benign
rs14363460110:17,636,388G/A—likely benign
rs20162784810:17,636,397A/C—likely benign
rs249384949910:17,636,398C/G—likely benign
rs1159923410:17,636,512C/T—benign
rs249385904010:17,641,274G/T—likely benign
rs249385905910:17,641,280T/C—likely benign
rs13880676510:17,641,284G/A—benign
rs249385908210:17,641,285C/T—uncertain significance
rs249385911410:17,641,295C/T—pathogenic
rs13869910910:17,641,303G/A—likely benign
rs78184646510:17,641,309T/C—likely benign
rs78243853110:17,641,311G/C—uncertain significance
rs127652781710:17,641,312C/T—likely benign
rs78255646010:17,641,318G/A—likely benign
rs37555145110:17,641,326G/C—uncertain significance
rs156450654810:17,641,336G/A—likely benign
rs155481628510:17,641,349C/T—uncertain significance
rs117360602410:17,641,372C/T—likely benign
rs19283799410:17,641,373G/A—likely benign
rs14692257910:17,641,374C/T—uncertain significance
rs78199839710:17,641,385A/T—uncertain significance
rs155481629210:17,641,389C/T—uncertain significance
rs14797460410:17,641,393A/G—likely benign
rs213150902410:17,641,415A/G—likely benign
rs78243283210:17,641,430C/A—likely benign
rs4549590210:17,641,534G/A—benign
rs183410047610:17,645,540A/G—likely benign
rs37214247210:17,645,548G/A—likely benign
rs78211369710:17,645,557A/T—likely pathogenic
rs88861239210:17,645,559T/C—uncertain significance
rs78278408710:17,645,565T/C—uncertain significance
rs78182730610:17,645,569C/A—uncertain significance
rs148776138210:17,645,571G/A—uncertain significance
rs213151262610:17,645,580G/A—likely benign
rs78269950510:17,645,583C/A—uncertain significance
rs249386803710:17,645,584C/T—likely pathogenic
rs100574488510:17,645,620G/C—uncertain significance
rs14164601710:17,645,630C/T—uncertain significance
rs134696404710:17,645,632G/A—uncertain significance
rs155481674210:17,645,651A/T—likely benign
rs20083109210:17,645,659A/C—likely benign
rs7681919110:17,645,700G/C—benign
rs121791006710:17,645,722C/T—uncertain significance
rs98092805110:17,645,734A/C—uncertain significance
rs155481676210:17,645,755T/C—likely benign
rs225280810:17,645,814T/C—benign
rs37339832510:17,645,909C/T—likely benign
rs155481680810:17,645,914T/C—likely benign
rs183410669810:17,645,918G/A—likely benign
rs249386919310:17,645,949G/A—pathogenic
rs78254907310:17,645,953A/C—uncertain significance
rs101488569310:17,645,963G/A—uncertain significance
rs78225819410:17,645,970G/T—uncertain significance
rs183410755510:17,645,982A/G—uncertain significance
rs249386934510:17,645,996G/A—uncertain significance
rs78242397110:17,646,012A/G—uncertain significance
rs15058601110:17,646,017C/T—uncertain significance
rs53340059210:17,646,021C/T—uncertain significance
rs78210575610:17,646,024T/C—uncertain significance
rs183410867610:17,646,027C/A—uncertain significance
rs11629403610:17,646,042A/G—likely benign
rs155481683810:17,646,053A/C—likely benign
rs14286014110:17,646,259C/T—benign
rs1125469110:17,658,996T/C—benign
rs127077614610:17,659,065C/T—likely benign

Showing 100 of 136 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.