OCA2
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000354638.8 |
|---|---|
| ClinVar P/LP records | 309 |
| Low-record-burden flag | no |
| Unit rows | 133 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 7.8% | 128 bp |
| Adjacent exon block | 25.9% | 481 bp |
| Downstream-CDS | 100.0% | 2,514 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0% with an estimated payload of 2,514 bp (≤5 kb).
- This label is boundary-based: high coverage can occur when many coding records lie downstream of an early transcript boundary.
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 |
|---|---|---|---|---|
| Tyrosinase-positive oculocutaneous albinism | 134 | Boundary-CDS payload architecture | 0.298507 | 0.992537 |
| SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 117 | Boundary-CDS payload architecture | 0.299145 | 1.000000 |
| OCA2-related disorder | 28 | Boundary-CDS payload architecture | 0.500000 | 1.000000 |
| Oculocutaneous albinism | 27 | Boundary-CDS payload architecture | 0.370370 | 1.000000 |