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.2550delT
- Report protein consequence
- p.Ala851Leufs*47
- Zygosity
- Heterozygous
- Molecular consequence
- Frameshift with premature termination
- Laboratory classification
- Pathogenic
- Classification source
- Family-reported formal result
- Inheritance
- De novo
- Relevant additional finding
- TRIO p.Ala2437Thr — paternally inherited and probably benign
- Normalized MANE/map notation
- NM_018489.3:c.2550delT · NP_060959.2:p.Ala851Leufs*47
- Variant type
- Frameshift
- Sex
- Female
- Age group
- Ages 26–30
- Protein position
- First altered residue · aa 851
Approved public summary
A woman in the 26–30 age group with a de novo pathogenic ASH1L frameshift variant. She had typical early milestones and clear early strengths, followed by school-age learning and memory difficulties, severe intellectual and executive-function support needs, progressive family-observed memory change, difficulty accessing words, and marked sleep-wake and fatigue episodes. She also has strong orientation and public-transport navigation skills, recognizes familiar people, enjoys friends and outings, and participates in structured social and occupational activities.