STN1

STN1 subunit of CST complex

Summary

OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]

Known Variants223 total

rsidPosition (GRCh37)AllelesClassClinVar
rs249301800810:105,642,442T/C—uncertain significance
rs141900452110:105,642,443C/T—likely benign
rs15126254010:105,642,448C/T—likely benign
rs14044992410:105,642,449G/A—uncertain significance
rs75328673910:105,642,453T/C—uncertain significance
rs75815044010:105,642,468T/C—uncertain significance
rs135383630810:105,642,487C/T—likely benign
rs146214996510:105,642,493C/T—likely benign
rs213435412310:105,642,494T/C—uncertain significance
rs77797767610:105,642,498G/A—likely benign
rs249301818710:105,642,524G/A—uncertain significance
rs75740686710:105,642,528C/T—uncertain significance
rs53208259910:105,642,529G/A—benign
rs78139971510:105,642,534G/A—likely benign
rs75669279410:105,642,538C/T—likely benign
rs78065541410:105,642,539G/A—uncertain significance
rs11581157610:105,642,542C/T—likely benign
rs76159309010:105,642,543G/A—uncertain significance
rs53776665110:105,642,544G/A—likely benign
rs75892483210:105,642,555G/A—uncertain significance
rs156491031810:105,642,558C/A—uncertain significance
rs213435420610:105,642,562G/C—likely benign
rs76275032610:105,642,569A/G—uncertain significance
rs75754044010:105,642,572T/G—uncertain significance
rs184307924610:105,642,573G/A—uncertain significance
rs20200134710:105,642,579A/T—uncertain significance
rs75621981410:105,642,584C/T—uncertain significance
rs128595490610:105,642,586G/T—likely benign
rs78070849210:105,642,589C/T—likely benign
rs184307952810:105,642,597T/C—uncertain significance
rs158949491010:105,642,613G/A—likely benign
rs75552447210:105,642,614T/G—likely benign
rs206783110:105,643,223G/Cupstream gene variant—
rs6127710010:105,643,352A/Gupstream gene variant—
rs1078677410:105,644,323G/T——
rs3437904710:105,644,473A/G——
rs381421910:105,647,095G/C——
rs213435855210:105,648,813T/C—likely benign
rs90502238910:105,648,816A/G—likely benign
rs76662090910:105,648,822C/A—likely benign
rs75559613810:105,648,829C/T—uncertain significance
rs37419663010:105,648,832T/C—uncertain significance
rs54166626010:105,648,857T/G—uncertain significance
rs74557904810:105,648,862C/T—uncertain significance
rs75355763110:105,648,863G/A—uncertain significance
rs135483339410:105,648,864G/A—likely benign
rs119585979510:105,648,877T/C—uncertain significance
rs129786008110:105,648,882G/T—uncertain significance
rs184312229410:105,648,896T/C—uncertain significance
rs76161572710:105,648,908T/C—likely benign
rs20054336310:105,648,915A/C—likely benign
rs77411413510:105,648,918A/T—likely benign
rs7925084210:105,648,922G/A—benign
rs1119184710:105,650,626G/T——
rs249302773810:105,651,871A/G—likely benign
rs213436100910:105,651,882T/A—uncertain significance
rs101924602010:105,651,893A/G—uncertain significance
rs133743340710:105,651,913T/C—uncertain significance
rs77963365710:105,651,915T/A—uncertain significance
rs74882673610:105,651,917T/C—uncertain significance
rs14261619910:105,651,919T/C—uncertain significance
rs213436105410:105,651,930T/A—likely benign
rs20107657910:105,651,940T/C—conflicting classifications of pathogenicity
rs77131379810:105,651,947G/A—likely benign
rs14686738110:105,651,955G/A—conflicting classifications of pathogenicity
rs13925801210:105,651,970C/T—uncertain significance
rs7415736510:105,651,971T/G—conflicting classifications of pathogenicity
rs36769957410:105,651,973T/C—uncertain significance
rs249302793910:105,651,977T/C—uncertain significance
rs76463904910:105,651,979G/T—uncertain significance
rs75194198210:105,651,980C/T—uncertain significance
rs75757786010:105,651,983T/C—uncertain significance
rs133524154510:105,652,010C/T—uncertain significance
rs75464167310:105,652,014T/A—likely benign
rs77835080210:105,652,015A/G—likely benign
rs90295954910:105,652,017A/G—likely benign
rs36870883510:105,652,020G/A—likely benign
rs142754445110:105,652,021A/G—likely benign
rs99790710:105,654,469A/Cregulatory region variant—
rs3500758910:105,655,228C/Tregulatory region variant—
rs197723010:105,656,616G/Aintron variant—
rs157022110:105,656,874G/Aintron variant—
rs20061787010:105,657,287A/G—likely benign
rs213436476110:105,657,288T/G—likely benign
rs20180957610:105,657,293A/G—likely benign
rs249303464110:105,657,297T/G—likely benign
rs143648613510:105,657,298G/A—likely benign
rs117696206410:105,657,299C/T—likely benign
rs1078677510:105,657,316G/Cmissense variantbenign
rs143159274110:105,657,323T/C—uncertain significance
rs74700214410:105,657,340T/C—uncertain significance
rs37250436710:105,657,341T/C—uncertain significance
rs78117487410:105,657,347G/C—uncertain significance
rs1119185310:105,657,363C/G—benign
rs74933216610:105,657,367A/G—uncertain significance
rs76866456310:105,657,368T/G—uncertain significance
rs14165477310:105,657,372C/T—likely benign
rs138973659910:105,657,374G/T—uncertain significance
rs127944654510:105,657,396C/A—likely benign
rs14593323010:105,657,403T/C—uncertain significance

Showing 100 of 223 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.