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.8120dup
- Report protein consequence
- p.(Glu2708ArgfsTer27)
- Zygosity
- Heterozygous
- Molecular consequence
- Frameshift with premature termination
- Laboratory classification
- Pathogenic
- Classification source
- Reviewed clinical genetics report
- Inheritance
- De novo
- Relevant additional finding
- Not reported in this public profile
- Normalized MANE/map notation
- NM_018489.3:c.8120dup · NP_060959.2:p.(Glu2708ArgfsTer27)
- Variant type
- Frameshift
- Sex
- Female
- Age group
- Ages 11–15
- Protein position
- First altered residue · aa 2,708
Approved public summary
An adolescent girl in the 11–15 age group with a heterozygous ASH1L frameshift variant reported as pathogenic and de novo. She reads fluently, remembers meaningful occasions and familiar information, and learns especially well through rhythm, repetition, songs, music, movement, and routine. Her history also includes developmental delay, word-finding difficulty, uneven memory and sequencing, challenges with time and number, a caregiver-reported epilepsy diagnosis in early childhood, very light and interrupted sleep, restricted eating, and petite growth.