216 source entries shown.
The map combines 189 entries reported on MANE with 27 converted from the canonical isoform.
VARIANT LANDSCAPE
External sources & provenance
Review the external position map, source-specific counts, overlap limits, downloadable records, and provenance.
EXTERNAL VARIANT SOURCES
External variant entries placed on the MANE protein map.
This external-source collection is not the connected cohort and does not identify membership in it. The sourcebook contains 226 entries: 216 can be placed on the MANE protein map, while the remaining 10 cannot be shown at one protein position but remain in the downloadable external-source workbook.
External source entries — MANE protein positions216 source entries with protein positions placed on the stated reference · NP_060959.2 / Q9NR48-2 axis · 200-aa bands
Predicted truncatingMissenseOther positionedOne color scale across this figure
Scroll horizontally to review every protein interval.
| Molecular class | 1–200 | 201–400 | 401–600 | 601–800 | 801–1,000 | 1,001–1,200 | 1,201–1,400 | 1,401–1,600 | 1,601–1,800 | 1,801–2,000 | 2,001–2,200 | 2,201–2,400 | 2,401–2,600 | 2,601–2,800 | 2,801–2,964 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Predicted truncating | 1 | 3 | 8 | 6 | 3 | 4 | 15 | 5 | 5 | 2 | 9 | 5 | 8 | 2 | 8 |
| Missense | 10 | 2 | 5 | 5 | 2 | 7 | 17 | 15 | 13 | 4 | 7 | 9 | 17 | 11 | 7 |
| Other positioned | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| All source entries shown | 11 | 5 | 13 | 11 | 5 | 11 | 33 | 20 | 18 | 6 | 16 | 14 | 25 | 13 | 15 |
Review all 226 external-source entries.
The sourcebook includes each reported reference coordinate and any MANE conversion. It is not the connected cohort, does not identify cohort membership, and different sources may describe the same person or variant.
Download the external variant sourcebook →EXTERNAL VARIANT SOURCES
226 entries collected from external variant sources.
216 can be placed on the MANE protein map; 10 cannot be shown at one protein position. Sources can overlap, so these entries do not represent 226 unique people or variants.
Scroll horizontally to review every column.
| Source group | Source entries | Shown on protein map | Not shown | What the source contains |
|---|---|---|---|---|
| SFARI Gene — ASH1L | 161 | 154 | 7 | The largest group of external ASH1L variant records in this sourcebook.Open ASH1L record ↗ |
| DECIPHER — ASH1L | 31 | 29 | 2 | Genotype–phenotype records that may overlap with publications or other databases.Open DECIPHER ASH1L ↗ |
| Literature / online sources | 17 | 16 | 1 | Published cases and other traceable online molecular records.Search the Evidence Library → |
| Simons / SFARI sources | 11 | 11 | 0 | Molecular results from Simons or SFARI sources that can be shown on the MANE protein map.Open Simons Searchlight ASH1L ↗ |
| ClinVar / GenomeConnect | 6 | 6 | 0 | Submitted molecular assertions; condition, submitter, review status, and evaluation date must be read together.Search ClinVar for ASH1L ↗ |
| Total source entries | 226 | 216 | 10 | Combined total across the sources listed above. |
How to read these sources
ClinVar is an archive of submitted assertions; condition, submitter, classification, review status, and last-evaluated date belong together. Some DECIPHER entries may also appear in publications or other databases, so these totals should not automatically be treated as different people.
CONTINUE WITH THE RELEVANT EVIDENCE