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The AEBP1 mutation data have been added to a new database.

LOVD AEBP1 homepage

General information
Gene name AE binding protein 1
Gene symbol AEBP1
Chromosome Location 7p13
Database location Dalgleish Laboratory, Department of Genetics, University of Leicester, UK
Curator Raymond Dalgleish and Wei Kheng Teh
PubMed references View all (unique) PubMed references in the AEBP1 database
Date of creation April 26, 2018
Last update August 15, 2019
Version AEBP1 190815
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_056775.1
Transcript refseq ID NM_001129.4
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 9
Total number of individuals with variant(s) 7
Total number of variants reported 14
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the AEBP1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the AEBP1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the AEBP1 database
Variants with no known pathogenicity Listing of all AEBP1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 303
Entrez Gene 165
OMIM - Gene 602981
UniProtKB (SwissProt/TrEMBL) Q8IUX7

Copyright & disclaimer
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