CLN3

CLN3 lysosomal/endosomal transmembrane protein, battenin

Summary

This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants827 total

rsidPosition (GRCh37)AllelesClassClinVar
rs15118016:28,487,213G/A——
rs75792380016:28,488,632C/T—uncertain significance
rs56113537416:28,488,637T/C—uncertain significance
rs86711760616:28,488,650C/T—uncertain significance
rs11311276616:28,488,682T/G—likely benign
rs204601003516:28,488,726C/A—uncertain significance
rs11384529916:28,488,738G/A—conflicting classifications of pathogenicity
rs75123556716:28,488,759C/T—uncertain significance
rs14295863916:28,488,779T/G—uncertain significance
rs19997920716:28,488,782G/T—uncertain significance
rs77843898416:28,488,808T/C—uncertain significance
rs204601260616:28,488,838C/T—likely benign
rs108530761716:28,488,845G/A—uncertain significance
rs121652192416:28,488,849G/C—uncertain significance
rs126444989016:28,488,852G/T—likely benign
rs250641357916:28,488,861A/G—likely benign
rs75951038016:28,488,863G/A—uncertain significance
rs214169343416:28,488,866G/A—likely benign
rs143395086416:28,488,869G/A—uncertain significance
rs117838019516:28,488,870C/T—likely benign
rs159661918716:28,488,878G/C—uncertain significance
rs214169347316:28,488,882C/T—likely benign
rs20071931116:28,488,885C/T—likely benign
rs38683370616:28,488,886G/Amissense variantuncertain significance
rs204601440316:28,488,888C/T—likely benign
rs204601448216:28,488,889A/G—likely pathogenic
rs214169353316:28,488,891G/A—likely benign
rs77822507816:28,488,892G/A—uncertain significance
rs75689399316:28,488,897C/A—likely benign
rs79605233816:28,488,898C/Tmissense variantpathogenic
rs159661924416:28,488,904G/A—uncertain significance
rs57047221016:28,488,905T/C—uncertain significance
rs38683370316:28,488,907T/Cmissense variantpathogenic
rs106488616:28,488,912G/A—likely benign
rs14612468616:28,488,914T/C—uncertain significance
rs250641472516:28,488,918G/A—likely benign
rs106479520616:28,488,920T/C—uncertain significance
rs122076794916:28,488,921G/A—likely benign
rs250641481816:28,488,923C/A—uncertain significance
rs20120623916:28,488,924C/T—conflicting classifications of pathogenicity
rs36980143216:28,488,925G/A—uncertain significance
rs77644398116:28,488,929T/C—uncertain significance
rs214169367316:28,488,939C/G—likely benign
rs74786155816:28,488,940C/T—uncertain significance
rs13984247316:28,488,941G/A—pathogenic
rs7759515616:28,488,943T/C—likely benign
rs14661018116:28,488,944G/T—conflicting classifications of pathogenicity
rs37736961016:28,488,945C/T—conflicting classifications of pathogenicity
rs128955993516:28,488,949T/C—uncertain significance
rs250641524816:28,488,950C/T—uncertain significance
rs76458536616:28,488,951A/T—uncertain significance
rs75427022216:28,488,954G/A—likely benign
rs38683370216:28,488,957C/Asplice region variantpathogenic
rs214169374616:28,488,958T/G—pathogenic
rs204601769616:28,488,959G/A—uncertain significance
rs250641542416:28,488,960G/C—likely benign
rs76499972016:28,488,961G/A—conflicting classifications of pathogenicity
rs104604729016:28,488,963G/A—likely benign
rs250641547316:28,488,964G/T—likely benign
rs214169376716:28,488,965G/A—likely benign
rs75004320516:28,488,966C/A—likely benign
rs75791110716:28,488,970G/C—likely benign
rs77948648016:28,488,972G/C—likely benign
rs74961212116:28,488,973C/T—likely benign
rs103239911916:28,488,975G/A—likely benign
rs148727114716:28,489,040T/C—likely benign
rs204602000116:28,489,041G/C—likely benign
rs76080786116:28,489,042C/T—likely benign
rs124649824316:28,489,043C/A—likely benign
rs76471149216:28,489,044C/T—likely benign
rs37010328716:28,489,045G/A—likely benign
rs250641655816:28,489,047C/A—likely benign
rs214169399416:28,489,048C/T—likely benign
rs58778089516:28,489,050A/G—likely benign
rs204602047216:28,489,056A/T—pathogenic
rs250641667816:28,489,057C/T—pathogenic
rs38683370116:28,489,060C/Astop gainedpathogenic
rs250641672116:28,489,061C/T—likely benign
rs75111401816:28,489,063G/C—uncertain significance
rs77933800716:28,489,064G/A—likely benign
rs75446822716:28,489,066C/T—uncertain significance
rs92686926116:28,489,067G/A—likely benign
rs78125382616:28,489,069T/C—uncertain significance
rs74796837716:28,489,070G/A—likely benign
rs204602090016:28,489,071T/A—uncertain significance
rs214169407316:28,489,072T/C—uncertain significance
rs250641700116:28,489,074T/C—uncertain significance
rs75594812916:28,489,076G/A—likely benign
rs214169408816:28,489,077A/T—uncertain significance
rs133420073216:28,489,082G/A—likely benign
rs77738310916:28,489,087C/T—uncertain significance
rs37102547116:28,489,088G/A—likely benign
rs250641724616:28,489,089T/A—uncertain significance
rs77246361716:28,489,091G/T—likely benign
rs14851484716:28,489,092G/A—uncertain significance
rs74714542716:28,489,093C/T—uncertain significance
rs214169413816:28,489,094T/C—likely benign
rs214169414016:28,489,095G/A—uncertain significance
rs76861471916:28,489,096C/T—uncertain significance
rs14534063716:28,489,097G/A—likely benign

Showing 100 of 827 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.