COL7A1
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000681320.1 |
|---|---|
| ClinVar P/LP records | 1079 |
| Low-record-burden flag | no |
| Unit rows | 703 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 5.2% | 201 bp |
| Adjacent exon block | 11.0% | 492 bp |
| Downstream-CDS | 99.8% | 8,832 bp |
Why this classification?
- Downstream-CDS record coverage is 99.8%, but the estimated downstream payload is 8,832 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 |
|---|---|---|---|---|
| Epidermolysis bullosa dystrophica | 365 | Boundary-CDS payload architecture | 0.106849 | 0.994521 |
| Recessive dystrophic epidermolysis bullosa | 327 | Boundary-CDS payload architecture | 0.085627 | 1.000000 |
| Generalized dominant dystrophic epidermolysis bullosa | 202 | Boundary-CDS payload architecture | 0.178218 | 1.000000 |
| Transient bullous dermolysis of the newborn | 175 | Boundary-CDS payload architecture | 0.085714 | 1.000000 |
| Epidermolysis bullosa pruriginosa | 168 | Boundary-CDS payload architecture | 0.095238 | 1.000000 |
| Pretibial dystrophic epidermolysis bullosa | 167 | Boundary-CDS payload architecture | 0.083832 | 1.000000 |
| Nonsyndromic congenital nail disorder 8 | 160 | Boundary-CDS payload architecture | 0.087500 | 1.000000 |
| Dominant dystrophic epidermolysis bullosa with absence of skin | 157 | Boundary-CDS payload architecture | 0.089172 | 1.000000 |