PRINTABLE CLINICIAN VIEW
Clinician orientation sheet
NM_018489.3:
Concise orientation only. Dates, normal findings, uncertainty, source boundaries, and longitudinal context remain in the complete profile.
Molecular result and profile context
- Report transcript + cDNA
- NM_018489.3:c.1885_1888delinsTAA
- Report protein consequence
- p.Ile629*
- Zygosity
- Heterozygous
- Molecular consequence
- Deletion-insertion creating a stop-gain
- Laboratory classification
- Pathogenic
- Classification source
- Family-reported formal result
- Inheritance
- De novo
- Relevant additional finding
- No copy-number finding reported; Fragile X testing was normal
- Normalized MANE/map notation
- NM_018489.3:c.1885_1888delinsTAA · NP_060959.2:p.Ile629*
- Variant type
- Deletion-insertion / stop-gain
- Sex
- Female
- Age group
- Ages 6–10
- Protein position
- Deletion-insertion stop · aa 629
Approved public summary
A girl in the 6–10 age group with a pathogenic, reportedly de novo ASH1L variant, a history of global developmental delay, mild intellectual disability, and continued developmental progress. Language and learning remain her main areas of support need.