GNAS
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000371085.8 |
|---|---|
| ClinVar P/LP records | 235 |
| Low-record-burden flag | no |
| Unit rows | 67 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 16.2% | 445 bp |
| Adjacent exon block | 40.4% | 738 bp |
| Downstream-CDS | 81.3% | 1,043 bp |
Why this classification?
- Downstream-CDS record coverage is 81.3% with an estimated payload of 1,043 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 |
|---|---|---|---|---|
| Pseudohypoparathyroidism type I A | 59 | Boundary-CDS payload architecture | 0.440678 | 0.847458 |
| Pseudopseudohypoparathyroidism | 36 | Diffuse/moderate architecture | 0.472222 | 0.722222 |
| Pseudohypoparathyroidism | 27 | Diffuse/moderate architecture | 0.481481 | 0.777778 |
| GNAS-related disorder | 27 | Diffuse/moderate architecture | 0.481481 | 0.777778 |
| Pseudohypoparathyroidism type 1C | 23 | Diffuse/moderate architecture | 0.434783 | 0.782609 |
| Pseudohypoparathyroidism type 1B | 21 | Diffuse/moderate architecture | 0.428571 | 0.666667 |
| Progressive osseous heteroplasia | 21 | Diffuse/moderate architecture | 0.428571 | 0.761905 |