LAMA2
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000421865.3 |
|---|---|
| ClinVar P/LP records | 953 |
| Low-record-burden flag | no |
| Unit rows | 379 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 3.0% | 174 bp |
| Adjacent exon block | 9.9% | 874 bp |
| Downstream-CDS | 98.5% | 9,254 bp |
Why this classification?
- Downstream-CDS record coverage is 98.5%, but the estimated downstream payload is 9,254 bp (5–20 kb).
- This label emphasizes payload or evidence burden rather than compact architecture.
How to read this page
Record coverage summarizes ClinVar P/LP records mapped to this gene. It does not estimate patient coverage, editing efficiency, therapeutic efficacy, or safety.
Downstream-CDS values are transcript-boundary hypotheses. High downstream coverage can be boundary-driven and should be read with payload and context burden.
Condition-associated pathogenic-record groups
Record-level ClinVar condition facets. These are not patient cohorts, disease prevalence, or patient coverage.
| Condition label | P/LP records | Condition architecture | Local coverage | Boundary-CDS coverage |
|---|---|---|---|---|
| LAMA2-related muscular dystrophy | 548 | Boundary-CDS payload architecture | 0.094891 | 0.972628 |
| Merosin deficient congenital muscular dystrophy | 515 | Boundary-CDS payload architecture | 0.116505 | 0.978641 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 306 | Boundary-CDS payload architecture | 0.104575 | 0.990196 |