The ADNP gene homepage

General information
Gene symbol ADNP
Gene name activity-dependent neuroprotector homeobox
Chromosome 20
Chromosomal band q13.13
Imprinted Unknown
Genomic reference NG_034200.1
Transcript reference NM_015339.2
Exon/intron information NM_015339.2 exon/intron table
Associated with diseases HVDAS
Citation reference(s) PubMed: Helsmoortel et al. 2014
PubMed: Vandeweyer et al. 2014
PubMed: Pescosolido et al. 2014
Refseq URL Genomic reference sequence
Curators (2) Céline Helsmoortel and Elisa Cappuyns
Total number of public variants reported 133
Unique public DNA variants reported 95
Individuals with public variants 71
Hidden variants 23
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 May 09, 2022
Version ADNP:220509

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_015339.2.
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/ADNP
External URL ADNP research project
HGNC 15766
Entrez Gene 23394
PubMed articles ADNP
OMIM - Gene 611386
OMIM - Diseases HVDAS (MRD28)
HGMD ADNP
GeneCards ADNP
GeneTests ADNP
Orphanet ADNP


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024223 20 transcript variant 1 NM_015339.2 NP_056154.1 133


Copyright & disclaimer
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