ACTA1 homepage
Laing lab ACTA1 mutation database
LOVD ACTA1 homepage

General information
Gene name Skeletal muscle alpha-actin
Gene symbol ACTA1
Chromosome Location 1q42.1
Database location Laing Laboratory
Curator Nigel Laing and Kristen Nowak
Date of creation September 25, 2007
Last update November 10, 2009
Version ACTA1 091110
Add sequence variant Submit a sequence variant
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Total number of unique DNA variants reported 199
Total number of individuals with variant(s) 270
Total number of variants reported 279
Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the ACTA1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the ACTA1 database
Summary tables Summary of all sequence variants in the ACTA1 database, sorted by type of variant (with graphical displays and statistics)
Variants with no known pathogenicity Listing of all ACTA1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Search the database
By type of variant View sequence variant table after selecting one type of variant
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
OMIM - Gene 102610
OMIM - Disease #1 NEM3
OMIM - Disease #2 CFTD
HGMD ACTA1
GeneTests ACTA1

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