The ATAD3A gene homepage

General information
Gene symbol ATAD3A
Gene name ATPase family, AAA domain containing 3A
Chromosome 1
Chromosomal band p36.33
Imprinted Unknown
Genomic reference NG_053035.1
Transcript reference NM_018188.3
Exon/intron information NM_018188.3 exon/intron table
Associated with diseases HAYOS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 67
Unique public DNA variants reported 58
Individuals with public variants 13
Hidden variants 10
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 May 03, 2013
Date last updated April 14, 2021
Version ATAD3A:210414

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_018188.3.
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 https://www.LOVD.nl/ATAD3A
HGNC 25567
Entrez Gene 55210
PubMed articles ATAD3A
OMIM - Gene 612316
OMIM - Diseases HAYOS (syndrome, Harel-Yoon (HAYOS))
HGMD ATAD3A
GeneCards ATAD3A
GeneTests ATAD3A
Orphanet ATAD3A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003012 1 transcript variant 1 NM_018188.3 NP_060658.3 67


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