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Laing Laboratory Variation Database

Skeletal muscle alpha-actin (ACTA1)

LOVD v.2.0 Build 20 [ Current LOVD status ]
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Curators: Nigel Laing and Kristen Nowak

Laing lab ACTA1 mutation database

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	September 24, 2010
Version	ACTA1 100924
Add sequence variant	Submit a sequence variant
First time submitters	Register here
Total number of unique DNA variants reported	200
Total number of individuals with variant(s)	274
Total number of variants reported	283

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