CPNE7

copine 7

Summary

This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

Known Variants67 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76344250616:89,642,364G/A—uncertain significance
rs142749570816:89,643,975G/C—uncertain significance
rs74958709416:89,644,005C/G—uncertain significance
rs116263814916:89,644,025G/A—uncertain significance
rs98542087416:89,644,055G/A—uncertain significance
rs74618926316:89,644,067C/T—uncertain significance
rs118795516616:89,644,115T/C—uncertain significance
rs78171485816:89,645,268G/A—uncertain significance
rs205890249316:89,645,295A/C—uncertain significance
rs37400607916:89,645,325G/C—uncertain significance
rs37019235016:89,645,348C/A—uncertain significance
rs53421095616:89,645,383C/T—uncertain significance
rs3465278116:89,646,023C/G——
rs56995115616:89,646,728A/G——
rs119261800016:89,649,852G/C—uncertain significance
rs15059583716:89,649,889G/A—uncertain significance
rs20047704016:89,649,905C/T—uncertain significance
rs74842284916:89,650,130G/T—uncertain significance
rs77250278016:89,650,442G/A—uncertain significance
rs76411847116:89,650,466G/A—uncertain significance
rs254396521516:89,650,473T/C—uncertain significance
rs56727228816:89,650,488G/A—uncertain significance
rs53488979616:89,650,505G/A—uncertain significance
rs76179215616:89,651,233G/A—uncertain significance
rs37364173116:89,651,894C/T—uncertain significance
rs14061190916:89,651,940C/G—uncertain significance
rs13828344716:89,651,958A/G—likely benign
rs120313448916:89,652,114A/G—uncertain significance
rs119600583116:89,652,123G/A—uncertain significance
rs55530433116:89,652,131G/A—uncertain significance
rs130482707416:89,652,152A/G—uncertain significance
rs55836324316:89,652,965C/A——
rs37627794616:89,653,121G/A—uncertain significance
rs36844273016:89,653,147G/A—likely benign
rs37199701416:89,655,117C/T—uncertain significance
rs2856852316:89,655,120G/A—likely benign
rs75168913716:89,655,149C/T—uncertain significance
rs98720316016:89,655,152T/C—uncertain significance
rs14546250816:89,655,164G/A—uncertain significance
rs14899966216:89,655,171T/A—uncertain significance
rs98398954216:89,655,185T/C—uncertain significance
rs19974694816:89,655,194G/A—uncertain significance
rs104645727216:89,655,200T/C—uncertain significance
rs14298289516:89,656,320C/T—likely benign
rs205914345616:89,656,336G/T—uncertain significance
rs74565718616:89,656,340G/A—uncertain significance
rs86847108416:89,657,437A/G—uncertain significance
rs135892659116:89,657,544G/A—uncertain significance
rs36868544216:89,657,546G/A—uncertain significance
rs13890029116:89,657,579G/A—uncertain significance
rs14061440016:89,657,640C/T—uncertain significance
rs53342097216:89,657,645G/A—uncertain significance
rs288954216:89,658,254G/C——
rs95162268316:89,661,805G/A—uncertain significance
rs76439462416:89,661,808G/A—uncertain significance
rs37721077416:89,661,832C/T—uncertain significance
rs37352103816:89,661,856C/T—uncertain significance
rs77889266916:89,661,886G/A—uncertain significance
rs37298858316:89,661,937G/A—uncertain significance
rs74972504016:89,661,944G/A—uncertain significance
rs57340956916:89,661,971G/A—uncertain significance
rs147126422616:89,662,000G/C—uncertain significance
rs205925773216:89,662,907C/G—uncertain significance
rs74677332816:89,662,919G/A—uncertain significance
rs15005550416:89,662,935C/T—uncertain significance
rs254406720516:89,662,989G/A—likely benign
rs76608222116:89,662,994C/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.