PRINTABLE CLINICIAN VIEW
Clinician orientation sheet
NM_001366177.2:
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_001366177.2:c.5756G>A
- Report protein consequence
- NP_060959.2:p.Trp1919*
- Zygosity
- Heterozygous
- Molecular consequence
- Nonsense / stop-gain
- Laboratory classification
- Pathogenic
- Classification source
- Family-reported formal result
- Inheritance
- De novo
- Relevant additional finding
- SYP p.Val110Met — assessed as nonpathogenic
- Normalized MANE/map notation
- NM_018489.3:c.5756G>A · NP_060959.2:p.Trp1919*
- Variant type
- Nonsense / stop-gain
- Sex
- Male
- Age group
- Ages 11–15
- Protein position
- Premature stop · aa 1,919
Approved public summary
A boy in the 11–15 age group with a heterozygous de novo pathogenic truncating ASH1L variant, early hypotonia and developmental differences, speech emerging at approximately three and a half to four years, a strongly context-dependent communication and learning profile, marked difficulty with processing speed and mental calculation, sensory and routine-related barriers, substantial educational and daily-living support needs, strabismus and refractive error requiring glasses and surgery, a prolonged orthodontic course for a dental-arch relationship anomaly, a parent-reported history of severe hearing impairment associated with enlarged adenoids, intermittent very long urine-holding periods, and no seizures reported by his mother.