The MYH11 gene homepage

General information
Gene symbol MYH11
Gene name myosin, heavy chain 11, smooth muscle
Chromosome 16
Chromosomal band p13.11
Imprinted Unknown
Genomic reference NG_009299.1
Transcript reference NM_001040113.1
Exon/intron information NM_001040113.1 exon/intron table
Associated with diseases AAT-4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Jacopo Celli, Janneke Weiss, and Alessandra Maugeri
Total number of public variants reported 435
Unique public DNA variants reported 289
Individuals with public variants 306
Hidden variants 31
Download all this gene's data Download all data
Date created January 13, 2011
Date last updated September 17, 2021
Version MYH11:210917

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_001040113.1.
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/MYH11
HGNC 7569
Entrez Gene 4629
PubMed articles MYH11
OMIM - Gene 160745
OMIM - Diseases AAT-4 (aneurysm, aortic, thoracic, familial, type 4 (AAT-4))
HGMD MYH11
GeneCards MYH11
GeneTests MYH11
Orphanet MYH11


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000656 16 transcript variant SM2B NM_001040113.1 NP_001035202.1 435


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