MYHAS
Chr 17myosin heavy chain gene cluster antisense RNA
684
ClinVar variants
32
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— MYHAS
📋
ClinVar Variants
32 Pathogenic / Likely Pathogenic· 545 VUS of 684 total submissions
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
684 submitted variants in ClinVar
Classification Summary
Pathogenic17
Likely Pathogenic15
VUS545
Likely Benign106
Conflicting1
17
Pathogenic
15
Likely Pathogenic
545
VUS
106
Likely Benign
1
Conflicting
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 12 | 0 | 5 | 0 | 17 |
Likely Pathogenic | 11 | 0 | 4 | 0 | 15 |
VUS | 5 | 518 | 18 | 4 | 545 |
Likely Benign | 0 | 7 | 38 | 61 | 106 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 28 | 525 | 65 | 65 | 684 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MYHAS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)
Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Differentially expressed lncRNAs in SOD1G93A mice skeletal muscle: H19, Myhas and Neat1 as potential biomarkers in amyotrophic lateral sclerosis.
López-Royo T et al.·Open Biol
2024🔓 Open Access
Top 5 resultsSearch Europe PMC ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)