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.3838C>T
- Report protein consequence
- p.Arg1280*
- Zygosity
- Heterozygous
- Molecular consequence
- Nonsense / stop-gain
- Laboratory classification
- Pathogenic
- Classification source
- Original report reviewed
- Inheritance
- De novo
- Relevant additional finding
- No additional clinically relevant variant identified on exome re-evaluation
- Normalized MANE/map notation
- NM_018489.3:c.3838C>T · NP_060959.2:p.Arg1280*
- Variant type
- Nonsense / stop-gain
- Sex
- Female
- Age group
- Ages 21–25
- Protein position
- Premature stop · aa 1,280
Approved public summary
A woman in the 21–25 age group with a de novo truncating ASH1L variant, lifelong developmental and language differences, moderate intellectual disability, autism-spectrum disorder, and substantial support needs. Her childhood records document a distinctive combination of auditory-language difficulty, severe visuomotor-integration weakness, low muscle tone, sensory-processing differences, and much stronger performance when tasks were quiet, predictable, and supported.