ACD

ACD shelterin complex subunit and telomerase recruitment factor

Summary

This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]

Known Variants891 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37311462916:67,691,240G/A—benign
rs7255653716:67,691,477A/T—benign
rs132042967116:67,691,513A/T—uncertain significance
rs254359553516:67,691,514T/C—likely benign
rs1492016:67,691,515A/C—likely benign
rs15038701116:67,691,516G/A—uncertain significance
rs131385918416:67,691,517G/C—uncertain significance
rs214296555516:67,691,519G/A—uncertain significance
rs254359562216:67,691,523G/A—uncertain significance
rs254359563116:67,691,525T/A—uncertain significance
rs76322570916:67,691,527A/G—likely benign
rs254359564516:67,691,529A/C—uncertain significance
rs205289472616:67,691,530C/T—likely benign
rs205289479616:67,691,531C/A—uncertain significance
rs76883109716:67,691,532C/G—uncertain significance
rs254359567116:67,691,535G/A—uncertain significance
rs254359569416:67,691,539T/G—likely benign
rs205289516916:67,691,542A/G—likely benign
rs254359572916:67,691,543T/G—uncertain significance
rs254359573616:67,691,544C/T—uncertain significance
rs254359574316:67,691,546A/G—uncertain significance
rs156763926716:67,691,547T/A—uncertain significance
rs105034616:67,691,550G/A—likely benign
rs15007805116:67,691,552A/G—uncertain significance
rs138806869516:67,691,553A/G—uncertain significance
rs254359578716:67,691,554G/A—likely benign
rs121536479716:67,691,555T/G—uncertain significance
rs254359580316:67,691,556G/A—uncertain significance
rs76509178016:67,691,566G/A—likely benign
rs254359585916:67,691,568C/T—uncertain significance
rs20222221716:67,691,570A/G—uncertain significance
rs254359587116:67,691,571T/C—likely benign
rs52847632616:67,691,572G/A—likely benign
rs254359588316:67,691,573A/T—uncertain significance
rs136780147716:67,691,576T/C—uncertain significance
rs77733025616:67,691,578G/A—likely benign
rs254359593816:67,691,579G/A—uncertain significance
rs20192684216:67,691,580G/A—uncertain significance
rs75684543916:67,691,587C/T—conflicting classifications of pathogenicity
rs159776702316:67,691,591G/A—likely benign
rs141327078516:67,691,601A/G—likely benign
rs74637895516:67,691,603C/T—likely benign
rs37167016616:67,691,606T/C—likely benign
rs6711497916:67,691,645G/T—benign
rs95540797616:67,691,648C/T—likely benign
rs77649495116:67,691,656G/A—likely benign
rs205289889116:67,691,664C/G—uncertain significance
rs140765731616:67,691,666T/G—uncertain significance
rs697916:67,691,668A/Gmissense variantbenign
rs254359658016:67,691,669C/A—uncertain significance
rs159776740716:67,691,670A/G—likely benign
rs254359659916:67,691,671G/A—uncertain significance
rs254359661616:67,691,674T/C—uncertain significance
rs254359663316:67,691,676G/A—likely benign
rs254359665316:67,691,679C/A—likely benign
rs139758471616:67,691,680C/T—conflicting classifications of pathogenicity
rs77532315616:67,691,681G/A—uncertain significance
rs76270456516:67,691,682A/G—likely benign
rs93606904116:67,691,683G/A—uncertain significance
rs144536907116:67,691,686C/T—uncertain significance
rs254359671216:67,691,688G/A—likely benign
rs254359673616:67,691,690G/C—uncertain significance
rs205289990416:67,691,692G/A—uncertain significance
rs75128499416:67,691,694C/T—likely benign
rs37274762916:67,691,695G/A—uncertain significance
rs99015187016:67,691,697G/C—uncertain significance
rs254359679416:67,691,699A/G—uncertain significance
rs14941824916:67,691,701G/C—uncertain significance
rs254359684316:67,691,703T/C—likely benign
rs75002337016:67,691,704G/C—uncertain significance
rs254359688016:67,691,706C/T—likely benign
rs128112109516:67,691,711A/T—uncertain significance
rs147690391516:67,691,716T/C—uncertain significance
rs78047813916:67,691,717A/G—uncertain significance
rs75533050216:67,691,724G/A—likely benign
rs205290117816:67,691,725G/A—uncertain significance
rs77904117616:67,691,726C/A—uncertain significance
rs205290132416:67,691,730A/G—likely benign
rs254359704116:67,691,731C/A—uncertain significance
rs205290139316:67,691,732C/G—uncertain significance
rs37474289116:67,691,737C/T—uncertain significance
rs77233620316:67,691,738G/A—uncertain significance
rs119834132216:67,691,739A/T—uncertain significance
rs77327437116:67,691,746T/C—uncertain significance
rs254359715016:67,691,749G/A—uncertain significance
rs20144112016:67,691,750G/Tmissense variantpathogenic
rs20190742116:67,691,752G/A—uncertain significance
rs205290233716:67,691,754T/C—likely benign
rs20119225516:67,691,764G/A—likely benign
rs6718528816:67,691,766G/A—benign
rs105588445316:67,691,774T/C—likely benign
rs205290693816:67,691,871C/T—likely benign
rs254359794516:67,691,879C/G—likely benign
rs254359796516:67,691,881A/G—likely benign
rs214296721116:67,691,885T/C—uncertain significance
rs76175072116:67,691,890C/T—uncertain significance
rs254359801516:67,691,891A/C—uncertain significance
rs77180216716:67,691,894C/T—uncertain significance
rs77277104716:67,691,896G/C—uncertain significance
rs98533130916:67,691,898G/A—likely benign

Showing 100 of 891 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.