HTT

huntingtin

Summary

Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]

Known Variants645 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7628554:3,074,795A/T——
rs28579354:3,075,691G/A——
rs17123935824:3,076,632A/C—uncertain significance
rs14697767244:3,076,638A/C—uncertain significance
rs13024323284:3,076,650A/C—uncertain significance
rs5877778994:3,076,656A/C—not provided
rs12613693114:3,076,674C/A—uncertain significance
rs14801449204:3,076,717G/T—likely benign
rs14422657634:3,076,723G/T—uncertain significance
rs8683484504:3,076,809A/C—likely benign
rs38569734:3,080,173G/Aupstream gene variant—
rs21101420344:3,088,684T/C—likely benign
rs7703705004:3,088,697C/G—uncertain significance
rs1400194824:3,088,720A/C—benign
rs1841729094:3,088,763G/A—likely benign
rs7453647444:3,101,008C/T—uncertain significance
rs3719656754:3,101,010A/G—likely benign
rs777421644:3,101,038A/G—uncertain significance
rs9884415014:3,101,063A/G—uncertain significance
rs9533903054:3,101,086A/G—uncertain significance
rs7560396314:3,101,097C/T—likely benign
rs21101553744:3,101,132T/A—likely benign
rs20241154:3,104,568A/Gintron variant—
rs2003315344:3,105,586C/T—benign
rs12010709304:3,105,604T/A—likely benign
rs2017365564:3,105,617C/T—likely benign
rs2021501644:3,107,081C/T—likely benign
rs1848205674:3,107,140C/T—likely benign
rs7712012534:3,107,149G/A—likely benign
rs2021322944:3,107,171G/T—likely benign
rs7670646914:3,109,022G/C—uncertain significance
rs3742674924:3,109,063C/T—likely benign
rs21101633574:3,109,075C/T—likely benign
rs24758912864:3,109,089C/T—likely benign
rs1863559144:3,109,095C/T—likely benign
rs168438364:3,113,337G/C——
rs3750405554:3,117,013G/A—likely benign
rs15785103524:3,117,017T/G—likely benign
rs7539983354:3,117,026C/T—likely benign
rs1384230624:3,117,027G/A—likely benign
rs7683349514:3,117,075C/A—likely benign
rs11918053284:3,117,087G/A—likely benign
rs8946729164:3,117,092C/T—uncertain significance
rs5483520924:3,117,133A/G—uncertain significance
rs19360324:3,117,168C/G—benign
rs7772073414:3,117,178G/T—uncertain significance
rs1430013554:3,117,181G/A—likely benign
rs21101715934:3,117,186A/G—likely benign
rs5463382414:3,117,188A/G—likely benign
rs1995096184:3,117,828C/G—likely benign
rs3757997474:3,117,842C/T—uncertain significance
rs21101724454:3,117,857T/C—uncertain significance
rs3704458604:3,117,861C/T—likely benign
rs14417207494:3,117,930C/T—likely benign
rs3761290834:3,117,936C/T—likely benign
rs9816997094:3,117,939A/C—likely benign
rs21101725364:3,117,970T/G—uncertain significance
rs7711323564:3,117,972T/C—likely benign
rs7596306144:3,118,001A/G—likely benign
rs7793937584:3,122,935C/G—likely benign
rs17152808574:3,122,955G/T—uncertain significance
rs1144760234:3,122,969G/C—benign
rs3745015424:3,122,989A/C—uncertain significance
rs21101776564:3,123,010G/C—uncertain significance
rs7510241934:3,123,043C/T—uncertain significance
rs7567153714:3,123,044G/A—likely benign
rs7597117554:3,123,053C/T—likely benign
rs24759388564:3,123,068C/T—benign
rs10657454:3,123,074C/T—benign
rs12432610574:3,123,081G/A—uncertain significance
rs3742960624:3,123,101C/G—likely benign
rs7739528514:3,123,120G/C—uncertain significance
rs3678339144:3,123,132C/T—uncertain significance
rs17152906514:3,123,148T/C—uncertain significance
rs3718490294:3,123,167A/G—likely benign
rs7551368814:3,123,168T/C—likely benign
rs12183107284:3,123,175G/A—likely benign
rs7787047394:3,124,626T/C—likely benign
rs13907369184:3,124,642G/A—uncertain significance
rs2004837534:3,124,676G/A—benign
rs2015578294:3,124,678A/T—benign
rs1437707344:3,127,262A/G—benign
rs3760390504:3,127,300A/C—uncertain significance
rs21101821044:3,127,341A/C—uncertain significance
rs17155635874:3,128,983G/C—likely benign
rs7471118414:3,128,990G/C—likely pathogenic
rs21101840214:3,128,994C/T—uncertain significance
rs3761149094:3,129,012G/C—uncertain significance
rs7619707094:3,129,029T/G—uncertain significance
rs5486961254:3,129,044A/G—uncertain significance
rs5539635364:3,129,049A/G—likely benign
rs7662184894:3,129,050G/C—uncertain significance
rs2017397614:3,129,062C/T—uncertain significance
rs17155677454:3,129,086C/T—uncertain significance
rs24759633474:3,129,103G/A—likely benign
rs2018613254:3,129,109G/A—likely benign
rs1417606554:3,129,203G/A—uncertain significance
rs7474310014:3,129,206G/A—uncertain significance
rs7813537274:3,129,224A/G—uncertain significance
rs1180050954:3,129,240G/A—benign

Showing 100 of 645 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.