TYR
Compact local exon/block record cluster
| MANE transcript | ENST00000263321.6 |
|---|---|
| ClinVar P/LP records | 311 |
| Low-record-burden flag | no |
| Unit rows | 19 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 55.0% | 898 bp |
| Adjacent exon block | 98.7% | 2,062 bp |
| Downstream-CDS | 45.7% | 768 bp |
Why this classification?
- Local exon/block coverage is 98.7% with an estimated payload of 2,062 bp.
- This label means record burden clusters in a local transcript interval.
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 |
|---|---|---|---|---|
| Oculocutaneous albinism type 1A | 161 | Donor/payload-burden caveat | 1.000000 | 0.503106 |
| SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 133 | Donor/payload-burden caveat | 1.000000 | 0.503759 |
| Oculocutaneous albinism type 1B | 120 | Donor/payload-burden caveat | 1.000000 | 0.533333 |
| Oculocutaneous albinism | 47 | Donor/payload-burden caveat | 1.000000 | 0.446809 |
| TYR-related disorder | 38 | Donor/payload-burden caveat | 0.973684 | 0.526316 |
| Oculocutaneous albinism type 1 | 29 | Donor/payload-burden caveat | 1.000000 | 0.655172 |