The HTT gene homepage

General information
Gene symbol HTT
Gene name huntingtin
Chromosome 4
Chromosomal band p16.3
Imprinted Not imprinted
Genomic reference NG_009378.1
Transcript reference NM_002111.6
Exon/intron information NM_002111.6 exon/intron table
Associated with diseases HD, LOMARS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Willeke M.C. van Roon-Mom
Total number of public variants reported 6518
Unique public DNA variants reported 211
Individuals with public variants 96
Hidden variants 15
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated October 03, 2022
Version HTT:221003

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002111.6.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 4851
Entrez Gene 3064
PubMed articles HTT
OMIM - Gene 613004
OMIM - Diseases HD (Huntington disease (HD))
LOMARS (Lopes-Maciel-Rodan syndrome)
GeneCards HTT
GeneTests HTT
Orphanet HTT

Active transcripts




NCBI ID     

NCBI Protein ID     

00009737 4 huntingtin NM_002111.6 NP_002102.4 6518

Copyright & disclaimer
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