View ATXN1 gene homepage

General information
Gene symbol ATXN1
Gene name ataxin 1
Chromosome 6
Chromosomal band p23
Imprinted Unknown
Genomic reference NG_011571.1
Transcript reference NM_000332.3
Exon/intron information NM_000332.3
Associated with diseases SCA-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Willeke M.C. van Roon-Mom
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013

Links to other resources
Homepage URL https://www.LOVD.nl/ATXN1
HGNC 10548
Entrez Gene 6310
PubMed articles ATXN1
OMIM - Gene 601556
OMIM - Diseases SCA-1 (ataxia, spinocerebellar, type 1 (SCA-1))
HGMD ATXN1
GeneCards ATXN1
GeneTests ATXN1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003159 6 transcript variant 1 NM_000332.3 NP_000323.2 0


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