ASH1L LONGITUDINAL CASE PROFILE
Report transcript + cDNA
Not stated in the reviewed report
Report protein consequencep.(Phe1310Tyrfs*15)
Normalized MANE/map notationNP_060959.2:p.(Phe1310Tyrfs*15) — The reviewed report does not show a transcript, cDNA notation, or protein accession; the reported p.Phe1310 position is placed on the shared NP_060959.2 protein map.
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.