SPG11
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000261866.12 |
|---|---|
| ClinVar P/LP records | 558 |
| Low-record-burden flag | no |
| Unit rows | 229 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 10.2% | 745 bp |
| Adjacent exon block | 22.9% | 1,462 bp |
| Downstream-CDS | 96.4% | 7,072 bp |
Why this classification?
- Downstream coverage is high, but boundary, splice, dosage, or context assumptions dominate interpretation.
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 |
|---|---|---|---|---|
| Hereditary spastic paraplegia 11 | 502 | Boundary-CDS payload architecture | 0.241036 | 0.962151 |
| Charcot-Marie-Tooth disease axonal type 2X | 108 | Boundary-CDS payload architecture | 0.250000 | 0.981481 |
| Amyotrophic lateral sclerosis type 5 | 106 | Boundary-CDS payload architecture | 0.254717 | 0.981132 |
| Hereditary spastic paraplegia | 50 | Boundary-CDS payload architecture | 0.240000 | 1.000000 |
| Inborn genetic diseases | 30 | Boundary-CDS payload architecture | 0.333333 | 0.966667 |