ACTG1 gene homepage

General information
Gene symbol ACTG1
Gene name actin, gamma 1
Chromosome 17
Chromosomal band q25
Imprinted Unknown
Genomic reference NG_011433.1
Transcript reference NM_001614.3
Exon/intron information NM_001614.3 exon/intron table
Associated with diseases BRWS-2, DFNA-20, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 120
Unique public DNA variants reported 98
Individuals with public variants 20
Hidden variants 3
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No. 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated July 12, 2019
Version ACTG1:190712

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_001614.3.
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 http://www.LOVD.nl/ACTG1
External URL Orphanet
HGNC 144
Entrez Gene 71
PubMed articles ACTG1
OMIM - Gene 102560
OMIM - Diseases BRWS-2 (Baraitser-Winter syndrome, type 2 (BRWS-2))
DFNA-20 (DFNA-26)
HGMD ACTG1
GeneCards ACTG1
GeneTests ACTG1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000706 17 transcript variant 2 NM_001614.3 NP_001605.1 120


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