ASH1L LONGITUDINAL CASE PROFILE
Report cDNA
c.4043dup
Report protein consequencep.(K1349Efs*7)
Normalized protein-map notationNP_060959.2:p.(Lys1349Glufs*7) — The result page reports c.4043dup without a transcript accession and states no protein accession; only the expanded p.(Lys1349Glufs*7) consequence is placed on the shared NP_060959.2 map. — The laboratory result page abbreviates the protein consequence as p.(K1349Efs*7); the expanded p.(Lys1349Glufs*7) notation represents the same frameshift consequence.
A boy in the 6–10 age group with a de novo pathogenic ASH1L frameshift whose development is marked by meaningful gains and a distinctly uneven pattern of access. He may need a number line for a calculation such as 3 + 2 and has not yet memorized simple math facts, yet he understands greater-than and less-than relationships and can find coordinates. He communicates verbally, while prepositions and the smaller connecting words needed to build complete sentences remain difficult to organize. Across learning and daily life, concrete visual structure—including number lines, detailed schedules, and checklists—helps make abstract information and uncertain situations more manageable.