OPHN1 gene homepage

General information
Gene symbol OPHN1
Gene name oligophrenin 1
Chromosome X
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_008960.1
Transcript reference NM_002547.2
Exon/intron information NM_002547.2 exon/intron table
Associated with diseases ID, mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60)
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 74
Unique public DNA variants reported 63
Individuals with public variants 47
Hidden variants 0
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 24, 2018
Version OPHN1:180824

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_002547.2.
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/OPHN1
External URL Orphanet
HGNC 8148
Entrez Gene 4983
PubMed articles OPHN1
OMIM - Gene 300127
OMIM - Diseases mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60)
GeneCards OPHN1
GeneTests OPHN1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000696 X oligophrenin 1 NM_002547.2 NP_002538.1 74

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