CNTN1

contactin 1

Summary

The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Known Variants559 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1117783012:41,086,282C/A—benign
rs199260712:41,086,635A/G—benign
rs19045908812:41,114,756T/Aintron variant—
rs18172502612:41,125,164A/Gdownstream gene variant—
rs1237009012:41,134,785C/A——
rs729656012:41,156,808C/Tintron variant—
rs52727366512:41,203,875A/T——
rs476799112:41,219,126T/A——
rs31227412:41,246,280T/Aintron variant—
rs31227312:41,247,742G/C——
rs7327359012:41,254,878A/Tintron variant—
rs1117887912:41,273,689A/Gintron variant—
rs54022885912:41,281,447C/A——
rs1282199012:41,301,834T/G—likely benign
rs8013951112:41,302,108C/G—benign
rs11537830512:41,302,223A/G—benign
rs123657514212:41,302,254T/A—uncertain significance
rs75709916012:41,302,255C/T—likely benign
rs74585034912:41,302,261T/A—uncertain significance
rs14540678212:41,302,274T/A—uncertain significance
rs20105549912:41,302,276T/C—likely benign
rs194491590612:41,302,277A/G—uncertain significance
rs77369512012:41,302,283A/C—uncertain significance
rs14920314912:41,302,288T/C—likely benign
rs76124051512:41,302,290T/C—likely benign
rs194491693612:41,302,300G/A—uncertain significance
rs133873880912:41,302,306T/G—likely benign
rs126482656412:41,302,311T/C—likely benign
rs7703366612:41,302,351G/A—likely benign
rs7815004912:41,302,369G/A—likely benign
rs3568455212:41,302,374A/C—likely benign
rs7597053412:41,302,424A/G—benign
rs11481694712:41,303,686C/T—likely benign
rs230481912:41,303,825A/C—benign
rs77994765012:41,303,860T/C—likely benign
rs213681743812:41,303,875A/G—uncertain significance
rs249929185512:41,303,881C/T—uncertain significance
rs213681754312:41,303,895T/C—uncertain significance
rs77271719412:41,303,897T/C—likely benign
rs6174836512:41,303,903C/T—benign
rs249929221312:41,303,909T/C—likely pathogenic
rs37432523112:41,303,911A/G—uncertain significance
rs194497427012:41,303,922G/C—likely benign
rs137254312:41,312,147G/A—benign
rs1087935612:41,312,365A/T—benign
rs136292348112:41,312,434C/A—likely benign
rs102324518312:41,312,436T/C—likely benign
rs77019084412:41,312,453A/G—uncertain significance
rs194532961012:41,312,477A/T—uncertain significance
rs155518004612:41,312,478A/G—likely benign
rs6175410012:41,312,493T/C—likely benign
rs194533073112:41,312,506G/A—uncertain significance
rs142624128212:41,312,514A/C—likely benign
rs147730312012:41,312,530T/G—uncertain significance
rs249934707812:41,312,531C/T—uncertain significance
rs76196326812:41,312,535C/T—likely benign
rs213685728912:41,312,547A/G—likely benign
rs75382669312:41,312,548C/T—likely pathogenic
rs213685733812:41,312,549G/A—uncertain significance
rs729713212:41,312,553C/T—likely benign
rs55049149712:41,312,562C/T—likely benign
rs103365625612:41,312,564C/T—uncertain significance
rs116261911212:41,312,565G/A—likely benign
rs135626435212:41,312,567T/G—uncertain significance
rs77737052112:41,312,571C/T—likely benign
rs135573270212:41,312,573A/G—uncertain significance
rs249934781512:41,312,580T/C—likely benign
rs213685762112:41,312,583C/T—likely benign
rs36898776212:41,312,585C/T—likely benign
rs77041064012:41,312,586G/A—likely benign
rs74631999112:41,312,593T/C—likely benign
rs14417527812:41,312,642C/T—likely benign
rs140718738112:41,316,053C/A—likely benign
rs76512176812:41,316,076G/C—likely benign
rs37736498312:41,316,079C/T—likely benign
rs36994127812:41,316,082T/A—likely benign
rs194547043012:41,316,092A/G—uncertain significance
rs75120560112:41,316,095G/A—uncertain significance
rs75690736712:41,316,098C/T—pathogenic
rs194547090412:41,316,099G/A—uncertain significance
rs78062217212:41,316,101T/C—uncertain significance
rs14275596512:41,316,108T/C—conflicting classifications of pathogenicity
rs37091265012:41,316,111T/C—uncertain significance
rs78040437712:41,316,126T/C—uncertain significance
rs74986456112:41,316,134A/C—uncertain significance
rs77330563412:41,316,144A/G—uncertain significance
rs55391694512:41,316,145A/G—likely benign
rs15060104612:41,316,160A/T—likely benign
rs155518094712:41,316,172T/C—likely benign
rs194547446912:41,316,178A/G—likely benign
rs75555901712:41,316,228G/A—uncertain significance
rs77937568812:41,316,238A/C—likely benign
rs20139685312:41,316,243T/C—likely benign
rs230481812:41,316,381A/C—benign
rs15058717212:41,316,517G/C—likely benign
rs381625112:41,318,169G/T—benign
rs729974412:41,318,265C/T—benign
rs77677285912:41,318,342T/G—likely benign
rs5734092512:41,318,350C/T—benign
rs57575493112:41,318,351G/T—likely benign

Showing 100 of 559 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.