CA5A

carbonic anhydrase 5A

Summary

Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]

Known Variants169 total

rsidPosition (GRCh37)AllelesClassClinVar
rs93741350916:87,915,421T/C—uncertain significance
rs101395307516:87,918,010G/C——
rs970846816:87,920,966T/Cdownstream gene variant—
rs20168094916:87,921,725C/T—likely benign
rs137763666116:87,921,736T/C—uncertain significance
rs205566433316:87,921,768G/A—likely benign
rs15089199716:87,921,771C/T—likely benign
rs13833275016:87,921,772G/A—uncertain significance
rs76004246816:87,921,785G/A—uncertain significance
rs37207382216:87,921,786G/A—likely benign
rs76304482616:87,921,801A/C—likely benign
rs76441613916:87,921,804T/C—likely benign
rs76755607916:87,921,807G/A—likely benign
rs75614612416:87,921,809G/A—uncertain significance
rs214388865516:87,921,834C/T—likely benign
rs7281631116:87,921,846T/A—benign
rs155551911416:87,921,854A/G—uncertain significance
rs20119576916:87,921,865C/T—conflicting classifications of pathogenicity
rs76420596516:87,921,866G/A—uncertain significance
rs145757152016:87,921,871G/A—uncertain significance
rs76212873216:87,921,876G/C—likely benign
rs75056507116:87,921,878G/C—uncertain significance
rs250844181416:87,921,888A/T—likely benign
rs18230349716:87,924,851A/Tdownstream gene variant—
rs76496108116:87,925,392G/A—likely benign
rs37387703816:87,925,398G/A—likely benign
rs205571809516:87,925,405C/G—uncertain significance
rs75685477016:87,925,416C/T—uncertain significance
rs74857621016:87,925,426G/A—likely benign
rs14613690716:87,925,430T/C—likely benign
rs124008024716:87,925,435C/A—uncertain significance
rs117055286716:87,925,445C/T—uncertain significance
rs76519711516:87,925,447G/C—likely benign
rs56259825116:87,925,453C/T—likely benign
rs76279342616:87,925,454G/A—uncertain significance
rs56397199316:87,925,458C/Tmissense variantpathogenic
rs54791868916:87,925,459G/T—likely benign
rs77962607016:87,925,468C/T—likely benign
rs19206927416:87,925,469G/A—uncertain significance
rs37285340416:87,925,480C/T—likely benign
rs58777731616:87,925,482A/Gmissense variantpathogenic
rs52723970016:87,925,488C/T—uncertain significance
rs14200656816:87,925,489G/A—likely benign
rs36960048816:87,925,492G/A—likely benign
rs139171592416:87,925,496C/T—pathogenic
rs128067583316:87,925,503C/T—uncertain significance
rs14474460816:87,925,511G/T—uncertain significance
rs74994004916:87,925,515G/A—uncertain significance
rs159754183616:87,925,518G/A—likely benign
rs37749995716:87,925,522A/G—likely benign
rs14849600716:87,925,524T/C—likely benign
rs134476143816:87,925,532T/G—uncertain significance
rs37081633016:87,925,533C/T—uncertain significance
rs14915408216:87,925,534G/A—benign
rs74737177416:87,925,536A/T—uncertain significance
rs75747864616:87,925,539G/C—uncertain significance
rs78132700616:87,925,541C/T—uncertain significance
rs130040251716:87,925,543C/T—uncertain significance
rs139991516616:87,925,549C/T—likely benign
rs37731409616:87,925,550G/A—uncertain significance
rs55392841316:87,925,553C/T—uncertain significance
rs37092649016:87,925,555C/T—likely benign
rs15122038216:87,925,556G/A—uncertain significance
rs55852218016:87,925,567G/A—likely benign
rs11307094916:87,928,468G/C——
rs19007944716:87,932,746G/Aintron variant—
rs18815740216:87,933,749T/C—benign
rs250848284616:87,935,502C/G—likely benign
rs75629498816:87,935,508T/C—likely benign
rs250848287816:87,935,511A/C—likely benign
rs123243157416:87,935,517C/A—likely pathogenic
rs75391319916:87,935,520T/C—uncertain significance
rs13981690116:87,935,521A/T—uncertain significance
rs77906836216:87,935,523G/C—uncertain significance
rs18952339316:87,935,533C/T—likely benign
rs250848315416:87,935,535G/T—uncertain significance
rs76912364416:87,935,541T/A—uncertain significance
rs205588446316:87,935,548C/G—likely benign
rs205588461316:87,935,556G/A—likely pathogenic
rs14521523716:87,935,561G/A—uncertain significance
rs37237492816:87,935,578G/A—likely benign
rs37532154816:87,935,580G/A—conflicting classifications of pathogenicity
rs36932664716:87,936,012C/T—likely benign
rs205589187716:87,936,015C/A—likely benign
rs18377630316:87,936,019G/C—benign
rs14762357016:87,936,031C/Tsplice region variantpathogenic
rs14985496216:87,936,042C/T—uncertain significance
rs53486082616:87,936,043G/A—conflicting classifications of pathogenicity
rs37101738516:87,936,063T/C—uncertain significance
rs14218211016:87,936,072C/A—conflicting classifications of pathogenicity
rs76904003216:87,936,073G/A—likely benign
rs214395059816:87,936,074A/G—uncertain significance
rs250848582416:87,936,076A/T—likely benign
rs205589291416:87,936,078C/A—uncertain significance
rs36962929016:87,936,089T/C—conflicting classifications of pathogenicity
rs75367797816:87,936,111A/G—pathogenic
rs75460737416:87,936,113T/G—uncertain significance
rs55714536716:87,936,140G/T—benign
rs718669216:87,937,685C/A——
rs74834129416:87,938,381C/T—likely benign

Showing 100 of 169 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.