MYHAS

Gene

myosin heavy chain gene cluster antisense RNA, the group of Long non-coding RNAs with non-systematic symbols

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

Myopathy, proximal, and ophthalmoplegia

Max pathogenic AF

—

Genomic locus

chr17:10,291,816-10,684,235

External References & Databases

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYHAS variants in ClinVar

19 Conditions Cataloged
Myopathy, proximal, and ophthalmoplegiaTotal: 972
not providedTotal: 442
Inborn genetic diseasesTotal: 310
Hecht syndromeTotal: 117
not specifiedTotal: 77
Inclusion Body Myopathy, DominantTotal: 34
MYH2-related conditionTotal: 9
Carney complex - trismus - pseudocamptodactyly syndromeTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total000000

Highest pathogenic variant AF is 0.000157687

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
No transcripts match your selected source or search query.

dbNSFP Gene Annotations

Source: dbNSFP

For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.