The ATRX gene homepage

General information
Gene symbol ATRX
Gene name alpha thalassemia/mental retardation syndrome X-linked
Chromosome X
Chromosomal band q21.1
Imprinted Unknown
Genomic reference NG_008838.2
Transcript reference NM_000489.3
Exon/intron information NM_000489.3 exon/intron table
Associated with diseases ATMDS, ATRX, ID, mental retardation-hypotonic facies syndrome, X-linked
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 177
Unique public DNA variants reported 130
Individuals with public variants 88
Hidden variants 23
Download all this gene's data Download all data
Date created October 08, 2008
Date last updated December 02, 2021
Version ATRX:211202

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_000489.3.
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
HGNC 886
Entrez Gene 546
PubMed articles ATRX
OMIM - Gene 300032
OMIM - Diseases ATMDS (thalassemia, alpha, myelodysplasia syndrome, somatic (ATMDS))
ATRX (thalassemia, alpha/mental retardation syndrome (ATRX))
mental retardation-hypotonic facies syndrome, X-linked
GeneCards ATRX
GeneTests ATRX
Orphanet ATRX

Active transcripts




NCBI ID     

NCBI Protein ID     

00000806 X transcript variant 1 NM_000489.3 NP_000480.2 177

Copyright & disclaimer
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