LOVD ATP7A homepage

General information
Gene name ATPase, Cu++ transporting, alpha polypeptide
Gene symbol ATP7A
Chromosome Location Xq21.1
Database location grenada.lumc.nl
Curator Zeynep Tümer
PubMed references View all (unique) PubMed references in the ATP7A database
Date of creation July 28, 2011
Last update August 25, 2013
Version ATP7A130825
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_013224.1
Transcript refseq ID NM_000052.4
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 323
Total number of individuals with variant(s) 508
Total number of variants reported 510
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the ATP7A 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 ATP7A database, without patient data
Complete sequence variant listing Listing of all sequence variants in the ATP7A database
Variants with no known pathogenicity Listing of all ATP7A 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 869
Entrez Gene 538
OMIM - Gene 300011
UniProtKB (SwissProt/TrEMBL) Q04656
HGMD ATP7A
GeneCards ATP7A
GeneTests ATP7A
External link Orphanet