PRINTABLE CLINICIAN VIEW
Clinician orientation sheet
p.(Phe1310Tyrfs*15)
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
- Not stated in the reviewed report
- Report protein consequence
- p.(Phe1310Tyrfs*15)
- Zygosity
- Heterozygous
- Molecular consequence
- Frameshift with premature termination
- Laboratory classification
- Likely pathogenic
- Classification source
- Reviewed clinical genetics report
- Inheritance
- De novo
- Relevant additional finding
- None described in the reviewed material
- Normalized MANE/map notation
- NP_060959.2:p.(Phe1310Tyrfs*15)
- Variant type
- Frameshift
- Sex
- Male
- Age group
- Ages 6–10
- Protein position
- First altered residue · aa 1,310
Approved public summary
A boy in the 6–10 age group whose trio whole-exome sequencing identified a likely pathogenic, heterozygous, de novo ASH1L frameshift. His history includes delayed motor and language development, epilepsy, pronounced slowing of linear growth, early feeding fatigue, reflux, difficulty maintaining hydration, and a recurring summer pattern of increased sweating, fatigue, and reduced eating. He is verbal, can read, has an exceptional memory for lived experiences and familiar places, and learns best when spoken and written information is supported visually.