RMRP
Mechanism-complex limitation
| MANE transcript | ENST00000363046.2 |
|---|---|
| ClinVar P/LP records | 302 |
| Low-record-burden flag | no |
| Unit rows | 1 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 86.1% | 270 bp |
| Adjacent exon block | n/a | n/a |
| Downstream-CDS | n/a | n/a |
Why this classification?
- The disease mechanism may involve repeat, noncoding, splicing, or other biology not captured by VCF record coverage alone.
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 |
|---|---|---|---|---|
| Anauxetic dysplasia | 233 | Mechanism-complex limitation | 0.845494 | — |
| Metaphyseal chondrodysplasia, McKusick type | 186 | Mechanism-complex limitation | 0.876344 | — |
| Metaphyseal dysplasia without hypotrichosis | 29 | Mechanism-complex limitation | 0.931034 | — |
| Anauxetic dysplasia 1 | 27 | Mechanism-complex limitation | 0.925926 | — |