CDHR1

cadherin related family member 1

Summary

This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]

Known Variants752 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1276727610:85,954,258C/Aregulatory region variant—
rs53119488410:85,954,453G/A—likely benign
rs54337375710:85,954,484C/T—uncertain significance
rs11427326910:85,954,516C/T—likely benign
rs79472695410:85,954,517A/T—pathogenic
rs75870312510:85,954,520A/G—uncertain significance
rs184199635210:85,954,523C/T—uncertain significance
rs76669840710:85,954,529C/T—uncertain significance
rs146169178610:85,954,533G/A—pathogenic
rs122060213810:85,954,534G/A—pathogenic
rs135111060710:85,954,537C/T—likely benign
rs116200783110:85,954,540C/T—likely benign
rs75045449210:85,954,545C/T—uncertain significance
rs94247245710:85,954,546C/A—likely benign
rs117162331010:85,954,555G/A—likely benign
rs144739828110:85,954,556C/G—uncertain significance
rs7490372510:85,954,560G/T—conflicting classifications of pathogenicity
rs75561775210:85,954,564C/G—likely benign
rs146902593210:85,954,566G/A—uncertain significance
rs54719842710:85,954,572G/A—likely pathogenic
rs77763003510:85,954,576G/A—uncertain significance
rs92518907310:85,954,577T/C—uncertain significance
rs134046130710:85,954,580C/A—likely benign
rs213278296110:85,954,585G/T—likely benign
rs88836875410:85,954,587G/C—likely benign
rs184199826510:85,954,588C/A—likely benign
rs121533322510:85,954,590G/C—likely benign
rs184199836510:85,954,591C/T—likely benign
rs11514617210:85,954,617A/G—benign
rs14878400510:85,955,164C/T—likely benign
rs37455399810:85,955,233C/T—likely benign
rs36906421410:85,955,234T/C—likely benign
rs124355063310:85,955,247C/T—uncertain significance
rs75197259310:85,955,249G/A—pathogenic
rs213278471710:85,955,250C/T—uncertain significance
rs184201248310:85,955,254G/A—uncertain significance
rs75530577510:85,955,257C/A—likely benign
rs131967052910:85,955,269G/T—likely benign
rs184201320710:85,955,270C/T—uncertain significance
rs90962884910:85,955,279G/A—uncertain significance
rs77868197210:85,955,288G/A—uncertain significance
rs213278492110:85,955,290C/A—likely benign
rs20066136610:85,955,300A/G—uncertain significance
rs14367449510:85,955,302C/A—uncertain significance
rs13818227010:85,955,312G/A—conflicting classifications of pathogenicity
rs213278511310:85,955,323C/T—likely benign
rs88604732210:85,955,332G/A—uncertain significance
rs184201526410:85,955,334A/G—uncertain significance
rs20169821810:85,955,337C/A—likely benign
rs57007844510:85,955,338C/T—likely benign
rs129358780110:85,955,340C/T—uncertain significance
rs14144693810:85,955,341T/C—likely benign
rs75671497210:85,955,342G/A—likely benign
rs74840245210:85,955,350G/A—uncertain significance
rs184201598910:85,955,351T/C—uncertain significance
rs77010128210:85,955,355C/G—likely benign
rs138969372710:85,955,360C/A—likely benign
rs77090371810:85,955,362C/A—likely benign
rs1159236110:85,955,440C/T—benign
rs78011586110:85,956,244A/G—likely benign
rs156465544710:85,956,245C/T—likely benign
rs75472677210:85,956,252T/C—conflicting classifications of pathogenicity
rs36997497010:85,956,264C/T—uncertain significance
rs1278104810:85,956,268A/C—conflicting classifications of pathogenicity
rs13896756810:85,956,269G/A—uncertain significance
rs57537136410:85,956,275A/T—uncertain significance
rs132664298210:85,956,276C/A—uncertain significance
rs184203195610:85,956,277C/A—likely benign
rs184203206510:85,956,282A/G—uncertain significance
rs77289618910:85,956,288C/A—uncertain significance
rs123560354210:85,956,290G/C—uncertain significance
rs14154508810:85,956,292C/T—likely benign
rs76649245110:85,956,293C/T—uncertain significance
rs213278793410:85,956,317C/T—uncertain significance
rs37343873910:85,956,325C/T—likely benign
rs132085821010:85,956,329G/A—uncertain significance
rs77122156510:85,956,336G/A—uncertain significance
rs213278802910:85,956,341A/G—uncertain significance
rs37689511810:85,956,345G/A—uncertain significance
rs14759756610:85,956,346C/A—uncertain significance
rs4556713410:85,956,347G/A—uncertain significance
rs1159300510:85,956,349T/C—conflicting classifications of pathogenicity
rs249246662410:85,956,356G/C—uncertain significance
rs74740438810:85,956,362C/G—uncertain significance
rs76909237910:85,956,363C/T—uncertain significance
rs20168488710:85,956,366C/T—uncertain significance
rs184203436910:85,956,369T/C—uncertain significance
rs123267249310:85,956,386G/A—uncertain significance
rs249246696810:85,956,405A/G—uncertain significance
rs146422690510:85,956,407G/A—likely pathogenic
rs7923948710:85,956,412G/A—likely benign
rs249246709710:85,956,417G/C—likely benign
rs11769998710:85,957,456A/G—likely benign
rs37494586510:85,957,523C/T—likely benign
rs249247125110:85,957,526T/A—likely benign
rs140815138210:85,957,533G/T—likely benign
rs249247130510:85,957,542A/G—uncertain significance
rs123531862310:85,957,555T/C—uncertain significance
rs131465323310:85,957,560G/A—uncertain significance
rs75163053510:85,957,584C/T—likely benign

Showing 100 of 752 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.