POMGNT1
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000371984.8 |
|---|---|
| ClinVar P/LP records | 256 |
| Low-record-burden flag | no |
| Unit rows | 121 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 9.0% | 110 bp |
| Adjacent exon block | 33.2% | 482 bp |
| Downstream-CDS | 100.0% | 1,980 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0% with an estimated payload of 1,980 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 |
|---|---|---|---|---|
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 146 | Boundary-CDS payload architecture | 0.321918 | 0.979452 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 146 | Boundary-CDS payload architecture | 0.321918 | 0.979452 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 140 | Boundary-CDS payload architecture | 0.364286 | 1.000000 |
| Muscle eye brain disease | 72 | Boundary-CDS payload architecture | 0.375000 | 1.000000 |
| Retinitis pigmentosa 76 | 44 | Boundary-CDS payload architecture | 0.409091 | 1.000000 |
| Muscular dystrophy-dystroglycanopathy | 33 | Boundary-CDS payload architecture | 0.393939 | 1.000000 |