ASH1L LONGITUDINAL CASE PROFILE
Report transcript + cDNA
NM_001366177.2:
Report protein consequenceNP_060959.2:p.Trp1919*The available report-derived record states NP_060959.2, but the verified RefSeq product paired with NM_001366177.2 is NP_001353106.1. The source-stated accession is preserved and is not presented as a matched transcript–protein pair.
Normalized MANE/map notationNM_018489.3:c.5756G>A · NP_060959.2:p.Trp1919* — The available report-derived record uses NM_001366177.2. Its c.5756 / p.Trp1919 position maps 1:1 to the shared NM_018489.3 / NP_060959.2 MANE scale.
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.