CDHR5

cadherin related family member 5

Summary

This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]

Known Variants106 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13894614711:617,374C/T—uncertain significance
rs76466804211:617,406G/A—uncertain significance
rs75225003311:617,407C/T—uncertain significance
rs75850635211:617,466G/A—uncertain significance
rs14310943311:617,467C/T—likely benign
rs77531179711:617,482C/T—uncertain significance
rs75308371711:617,491C/G—uncertain significance
rs57809695311:617,520G/A—uncertain significance
rs77143719111:617,533C/T—uncertain significance
rs14666273311:617,541C/T—uncertain significance
rs14645853911:617,574G/T—uncertain significance
rs37057678411:617,584C/T—uncertain significance
rs77740924511:617,598G/A—uncertain significance
rs76760005711:617,620C/T—likely benign
rs148503736411:617,626G/A—uncertain significance
rs57568762411:617,673G/A—uncertain significance
rs92275531211:617,685T/A—uncertain significance
rs90990163611:617,688T/G—likely benign
rs19978641511:617,704C/T—uncertain significance
rs37560500511:617,709G/A—uncertain significance
rs75688913311:617,739G/A—uncertain significance
rs185704393811:617,744G/T—uncertain significance
rs274037911:617,967C/Gmissense variant—
rs15045719011:617,969G/C—uncertain significance
rs710875711:618,013C/Tmissense variant—
rs76386216811:618,042G/A—uncertain significance
rs14691768911:618,088G/A—uncertain significance
rs56564236611:618,095C/G—uncertain significance
rs75274779311:618,099G/A—uncertain significance
rs14303281611:618,626G/A—uncertain significance
rs20012481511:618,683T/G—uncertain significance
rs75471311511:618,720C/T—uncertain significance
rs75790911711:618,724G/A—uncertain significance
rs76130701311:618,769G/A—uncertain significance
rs75230955311:618,779G/C—uncertain significance
rs14628358911:618,806T/G—uncertain significance
rs77347585511:618,817G/A—uncertain significance
rs77975216011:618,884T/C—uncertain significance
rs144420125411:618,898C/G—uncertain significance
rs15108983011:618,913T/C—uncertain significance
rs14106053711:618,916G/A—uncertain significance
rs56009285311:618,922C/G—uncertain significance
rs77597838511:618,961G/C—uncertain significance
rs37116763711:618,976G/A—uncertain significance
rs76592119811:618,983T/A—uncertain significance
rs274037511:618,998G/Amissense variant—
rs54720117711:619,009G/T—uncertain significance
rs14824071911:619,036G/A—uncertain significance
rs20000525711:619,087G/T—uncertain significance
rs158993571211:619,106G/C—uncertain significance
rs124875977511:619,109G/A—uncertain significance
rs96528405111:619,129G/A—uncertain significance
rs37619619611:619,141G/T—uncertain significance
rs249403974711:619,150G/T—uncertain significance
rs76745406511:619,171G/T—uncertain significance
rs37652508711:619,344A/G—uncertain significance
rs75791296911:619,479C/T—uncertain significance
rs6173211211:619,492C/Tsynonymous variant—
rs249404816311:619,511G/T—uncertain significance
rs37262430611:619,547G/A—uncertain significance
rs75866320311:619,575C/T—uncertain significance
rs54897152711:619,682G/A—uncertain significance
rs145581212311:619,742A/G—uncertain significance
rs15021032011:619,781C/T—uncertain significance
rs92573054211:619,802C/T—uncertain significance
rs37178845411:619,809G/C—uncertain significance
rs76088071911:619,820G/A—uncertain significance
rs74672861011:619,865A/G—uncertain significance
rs75694325411:619,869C/T—uncertain significance
rs74796828711:620,088C/T—uncertain significance
rs54770965811:620,102C/T—likely benign
rs20177632711:620,120G/A—uncertain significance
rs249406397611:620,123T/C—uncertain significance
rs11561176611:620,151A/G—benign
rs15073696211:620,332C/T—uncertain significance
rs37203890011:620,362C/G—uncertain significance
rs14900214511:620,368G/A—uncertain significance
rs793216711:620,599G/Tupstream gene variant—
rs19976060911:621,093G/A—uncertain significance
rs141895221211:621,099A/G—uncertain significance
rs75931566711:621,181C/T—uncertain significance
rs77284328611:621,216G/A—uncertain significance
rs20087197611:621,346C/T—uncertain significance
rs74585557911:621,352A/G—uncertain significance
rs74722422211:621,368T/C—uncertain significance
rs52836864611:621,377G/A—likely benign
rs37485785611:621,380C/T—likely benign
rs36802946511:621,397C/T—likely benign
rs11426050011:621,418C/T—benign
rs76351852211:621,421T/C—uncertain significance
rs249409147411:621,440A/C—uncertain significance
rs37489434011:621,452C/T—uncertain significance
rs98080550511:621,608C/T—uncertain significance
rs75707998011:621,625T/G—uncertain significance
rs75884410111:621,635G/A—uncertain significance
rs54648215511:621,819A/G—uncertain significance
rs11426409211:621,883C/T—uncertain significance
rs18171946211:624,589G/T—uncertain significance
rs13954790211:624,603C/T—uncertain significance
rs76394782611:624,615G/T—uncertain significance

Showing 100 of 106 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.