DSCAS
Chr 18XLRX-linkedDSC1/DSC2 antisense RNA
I cannot write a clinical summary for the DSCAS gene as no protein function information was provided in the data. While the phenotypes indicate association with Duchenne muscular dystrophy, Becker muscular dystrophy, and dilated cardiomyopathy with X-linked inheritance, I cannot describe what the protein does without that fundamental information being included in the provided data.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
264 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 20 | 0 | 20 |
Likely Pathogenic | 2 | 0 | 1 | 0 | 3 |
VUS | 1 | 151 | 22 | 1 | 175 |
Likely Benign | 0 | 4 | 18 | 18 | 40 |
Benign | 0 | 3 | 4 | 1 | 8 |
Conflicting | — | 9 | |||
| Total | 3 | 158 | 65 | 20 | 255 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DSCAS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
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