CLPTM1

CLPTM1 regulator of GABA type A receptor forward trafficking

Summary

Predicted to enable GABA receptor binding activity. Predicted to be involved in regulation of T cell differentiation in thymus. Located in membrane. [provided by Alliance of Genome Resources, Apr 2025]

Known Variants87 total

rsidPosition (GRCh37)AllelesClassClinVar
rs19065166519:45,456,103T/Gupstream gene variant
rs14653740419:45,458,343G/Tlikely benign
rs100000548019:45,458,657C/Tuncertain significance
rs101854978619:45,458,658G/Alikely benign
rs102966160819:45,458,673G/Alikely benign
rs98094884219:45,458,705G/Cuncertain significance
rs116732060319:45,458,711G/Auncertain significance
rs251357887219:45,458,720G/Auncertain significance
rs57665189619:45,463,398A/G
rs76847572719:45,465,215C/Alikely benign
rs14489542219:45,465,241G/Auncertain significance
rs75315276119:45,465,257C/Tuncertain significance
rs1154146219:45,465,282G/Abenign
rs11199720019:45,466,325T/A
rs20491419:45,466,335C/Tintron variant
rs54238747519:45,475,770T/C
rs251359821219:45,476,356C/Tlikely benign
rs74541518419:45,476,379G/Auncertain significance
rs37761309019:45,476,407G/Alikely benign
rs3458626919:45,476,413C/Tbenign
rs134156042219:45,476,414G/Auncertain significance
rs20448119:45,476,422C/Tbenign
rs75618090519:45,476,428C/Tlikely benign
rs14318536919:45,477,171C/Tintron variant
rs5746575419:45,477,231C/T
rs1154146119:45,477,731T/Cbenign
rs75025893919:45,477,742A/Guncertain significance
rs76172174119:45,477,744G/Auncertain significance
rs76512417319:45,477,804G/Auncertain significance
rs75660653319:45,477,843G/Auncertain significance
rs130756160319:45,477,846A/Guncertain significance
rs251360091119:45,477,850C/Tuncertain significance
rs7788316519:45,477,859G/Abenign
rs14914566819:45,479,740A/Gintron variant
rs137436723019:45,480,669C/Tuncertain significance
rs13790480419:45,480,687C/Tbenign
rs57407047119:45,487,040A/G
rs13992248019:45,488,543G/Alikely benign
rs37595588519:45,488,546C/Tlikely benign
rs251361272019:45,489,740G/Auncertain significance
rs251361279819:45,489,790C/Auncertain significance
rs1167274819:45,490,192A/T
rs14250009219:45,490,447C/Tlikely benign
rs15094386119:45,490,478A/Guncertain significance
rs131817609019:45,490,495C/Tlikely benign
rs19992535419:45,490,529G/Auncertain significance
rs57675451719:45,490,540C/Tlikely benign
rs75351597219:45,490,555C/Tlikely benign
rs37661303119:45,490,556G/Auncertain significance
rs14352782519:45,490,643T/Clikely benign
rs135282945819:45,491,329C/Tlikely benign
rs90913419:45,493,061T/Cintron variant
rs87525519:45,493,635G/Cbenign
rs74569892719:45,493,701G/Tuncertain significance
rs13893499919:45,493,709T/Guncertain significance
rs77892539319:45,493,764C/Tuncertain significance
rs37687264519:45,493,794T/Cuncertain significance
rs251361770219:45,493,802C/Tuncertain significance
rs87525419:45,493,804C/Tbenign
rs74587234319:45,493,823A/Tuncertain significance
rs15129679419:45,493,842G/Alikely benign
rs14186923619:45,494,119G/Tuncertain significance
rs37642605619:45,494,160A/Guncertain significance
rs76635053319:45,494,177G/Auncertain significance
rs20086048819:45,494,505C/Tuncertain significance
rs14056480119:45,494,509A/Gbenign
rs14335925919:45,494,513G/Cbenign
rs15048152919:45,494,534C/Tbenign
rs74934156219:45,494,539G/Cuncertain significance
rs20004415819:45,494,550G/Auncertain significance
rs75199500719:45,494,630C/Tlikely benign
rs3610152019:45,495,579C/Tbenign
rs20202991119:45,495,863C/Tlikely benign
rs76312108419:45,495,887A/Guncertain significance
rs75379514819:45,495,911G/Auncertain significance
rs14487105319:45,495,915C/Tlikely benign
rs74672211419:45,495,959C/Tuncertain significance
rs75449497519:45,495,970G/Auncertain significance
rs19973576219:45,495,976G/Auncertain significance
rs20131443719:45,495,981C/Tlikely benign
rs14780130119:45,495,982G/Auncertain significance
rs133487882319:45,496,001G/Cuncertain significance
rs53353875119:45,496,038C/Tlikely benign
rs37181034419:45,496,079C/Guncertain significance
rs15048429319:45,496,095C/Tlikely benign
rs56926481319:45,496,133C/Guncertain significance
rs5720416819:45,496,776A/Gdownstream gene variant

Gene information from NCBI Gene. Variant classifications from ClinVar.