ARSD gene homepage

General information
Gene symbol ARSD
Gene name arylsulfatase D
Chromosome X
Chromosomal band p22.3
Imprinted Unknown
Genomic reference NG_012495.1
Transcript reference NM_001669.3
Exon/intron information NM_001669.3 exon/intron table
Associated with diseases -
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 27
Unique public DNA variants reported 24
Individuals with public variants 281
Hidden variants 92
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated August 08, 2017
Version ARSD:170808

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_001669.3.
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/ARSD
External URL Orphanet
HGNC 717
Entrez Gene 414
PubMed articles ARSD
OMIM - Gene 300002
HGMD ARSD
GeneCards ARSD
GeneTests ARSD


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001733 X arylsulfatase D NM_001669.3 NP_001660.2 27


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