KMT2D
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000301067.12 |
|---|---|
| ClinVar P/LP records | 1026 |
| Low-record-burden flag | no |
| Unit rows | 319 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 19.5% | 2,790 bp |
| Adjacent exon block | 24.4% | 3,492 bp |
| Downstream-CDS | 100.0% | 16,611 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0%, but the estimated downstream payload is 16,611 bp (5–20 kb).
- This label emphasizes payload or evidence burden rather than compact architecture.
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 |
|---|---|---|---|---|
| Kabuki syndrome 1 | 555 | Boundary-CDS payload architecture | 0.237838 | 0.998198 |
| Kabuki syndrome | 309 | Boundary-CDS payload architecture | 0.242718 | 0.996764 |
| Inborn genetic diseases | 37 | Boundary-CDS payload architecture | 0.324324 | 1.000000 |
| KMT2D-related disorder | 36 | Boundary-CDS payload architecture | 0.277778 | 1.000000 |
| Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 26 | Boundary-CDS payload architecture | 0.384615 | 1.000000 |