The ACTC1 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol ACTC1
Gene name actin, alpha, cardiac muscle 1
Chromosome 15
Chromosomal band q14
Imprinted Unknown
Genomic reference NG_007553.1
Transcript reference NM_005159.4
Exon/intron information NM_005159.4 exon/intron table
Associated with diseases ASD5, CMD1R, CMH11
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 229
Unique public DNA variants reported 147
Individuals with public variants 175
Hidden variants 29
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
An ACTC1 database is present at the Sarcomere Protein Gene Mutation Database and the FHC Mutation Database (NOTE: link is broken). We have tried to contact the database curators but thus far without success. The variants reported here are partly copied from these sites.
Date created May 01, 2010
Date last updated July 07, 2023
Version ACTC1:230707

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_005159.4.
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
HGNC 143
Entrez Gene 70
PubMed articles ACTC1
OMIM - Gene 102540
OMIM - Diseases ASD5 (septal defect, atrial, type 5 (ASD5))
CMH11 (cardiomyopathy, hypertrophic, familial, type 11 (CMH-11))
GeneCards ACTC1
GeneTests ACTC1
Orphanet ACTC1

Active transcripts




NCBI ID     

NCBI Protein ID     

00001126 15 actin, alpha, cardiac muscle 1 NM_005159.4 NP_005150.1 229

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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