PCBD1

pterin-4 alpha-carbinolamine dehydratase 1

Summary

This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Known Variants96 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7702940010:72,643,454A/T—likely benign
rs54413556410:72,643,591G/A—uncertain significance
rs56243372410:72,643,593C/T—likely benign
rs184653567210:72,643,600G/A—uncertain significance
rs971210:72,643,671T/C—benign
rs53964550710:72,643,678C/T—uncertain significance
rs77033482510:72,643,709A/Gstop lostpathogenic
rs144183989610:72,643,714A/T—uncertain significance
rs122029798610:72,643,722T/G—likely benign
rs77374413610:72,643,728T/C—conflicting classifications of pathogenicity
rs12191301510:72,643,730G/Astop gainedpathogenic
rs39751841610:72,643,733C/T—pathogenic
rs94767761610:72,643,734G/A—likely benign
rs184654005410:72,643,736T/C—uncertain significance
rs184654023610:72,643,741C/A—uncertain significance
rs141324578710:72,643,752T/G—likely benign
rs141170694910:72,643,758C/G—likely benign
rs11511783710:72,643,759C/Tmissense variantpathogenic
rs56450563710:72,643,760G/A—uncertain significance
rs10489417210:72,643,763C/Astop gainedpathogenic
rs55053955210:72,643,770G/A—likely benign
rs14821710010:72,643,773G/A—likely benign
rs37167674310:72,643,776A/G—likely benign
rs10489417710:72,643,778A/Gmissense variantpathogenic
rs74975165810:72,643,782A/G—likely benign
rs12191301410:72,643,786G/Amissense variantuncertain significance
rs77844518310:72,643,794C/T—likely benign
rs249283012810:72,643,800G/A—likely benign
rs76037960210:72,643,816A/G—likely benign
rs76838396310:72,643,817C/T—likely benign
rs158948402310:72,643,821A/C—likely benign
rs1099957310:72,644,378A/Gdownstream gene variant—
rs18390694410:72,644,891G/A—likely benign
rs75950672910:72,644,892C/T—likely benign
rs75295086810:72,644,894C/A—likely benign
rs20018819010:72,644,920C/T—uncertain significance
rs77821459810:72,644,921G/A—conflicting classifications of pathogenicity
rs74642657810:72,644,936A/G—likely benign
rs76833099310:72,644,946A/G—uncertain significance
rs127284828710:72,644,960C/T—likely benign
rs134410449310:72,644,963G/A—likely benign
rs249283247710:72,644,984A/G—likely benign
rs249283250710:72,645,000G/A—likely benign
rs76300252810:72,645,001G/C—likely benign
rs119710872010:72,645,005G/A—likely benign
rs249283254010:72,645,007G/A—likely benign
rs36789675110:72,645,014G/C—likely benign
rs82724210:72,645,200T/C—benign
rs7754539410:72,645,251G/A—benign
rs145846634410:72,645,539C/T—likely benign
rs249283350810:72,645,543C/G—likely benign
rs55195624210:72,645,548G/A—likely benign
rs123677328010:72,645,564G/A—likely benign
rs254630901810:72,645,579C/T—likely benign
rs249283364910:72,645,588G/A—likely benign
rs1155432510:72,645,599G/A—uncertain significance
rs72750536010:72,645,611C/Astop gainedpathogenic
rs249283373410:72,645,618C/T—likely benign
rs249283376610:72,645,624A/G—likely benign
rs249283378810:72,645,629T/G—likely benign
rs131590287610:72,645,630C/G—likely benign
rs11426528310:72,645,633G/A—likely benign
rs77698933210:72,645,642C/A—likely benign
rs53542565010:72,645,645C/G—uncertain significance
rs125891452310:72,645,653T/A—uncertain significance
rs54737592710:72,645,663G/A—likely benign
rs77559863510:72,645,666C/T—likely benign
rs142113343410:72,645,677C/T—uncertain significance
rs184657572410:72,645,685G/A—uncertain significance
rs130332317210:72,645,690G/C—likely benign
rs20138977810:72,645,692A/G—likely benign
rs249283403710:72,645,693G/T—likely benign
rs249283404810:72,645,697G/A—likely benign
rs249283406010:72,645,704A/C—likely benign
rs155484107510:72,645,705C/G—likely benign
rs5879731010:72,645,826A/G—benign
rs5703726810:72,645,966G/A—benign
rs7668310310:72,647,970C/T—likely benign
rs285461410:72,648,083T/G—benign
rs285461310:72,648,084C/T—benign
rs82723910:72,648,086A/G—benign
rs82723810:72,648,134A/G—likely benign
rs104594467510:72,648,270G/A—conflicting classifications of pathogenicity
rs249283937510:72,648,274A/T—likely benign
rs138760353010:72,648,275C/A—likely benign
rs130385790210:72,648,277C/A—likely benign
rs123413152410:72,648,279T/C—likely benign
rs121819375110:72,648,287C/A—likely pathogenic
rs88604711410:72,648,305C/G—uncertain significance
rs57343058910:72,648,317G/C—uncertain significance
rs82723710:72,648,336T/C—likely benign
rs56459837410:72,648,343G/T—uncertain significance
rs54504600310:72,648,386C/T—uncertain significance
rs88604711510:72,648,398A/G—uncertain significance
rs263033610:72,648,422T/G—benign
rs1278347910:72,648,664G/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.