ASH1L LONGITUDINAL CASE PROFILE
Report transcript + cDNA
NM_018489.2:
Report protein consequencep.Ser2453Pro
Normalized MANE/map notationNM_018489.3:c.7357T>C · NP_060959.2:p.Ser2453Pro — The reviewed report uses NM_018489.2. NM_018489.2 and MANE Select NM_018489.3 use the same coding coordinate here, so c.7357T>C and p.Ser2453Pro map 1:1.
A girl in the 16–20 age group with the ASH1L missense variant NM_018489.2:c.7357T>C, p.Ser2453Pro, and a complex history shaped by autism, severe sensory-based food restriction, earlier failure to thrive, pica, fasting-associated hypoglycemia with ketosis, cyclic vomiting syndrome, chronic constipation, marked impulsivity and elopement risk, thyroid autoantibodies, and significant premenstrual symptoms. She is also determined, musical, socially interested, and strongly motivated by the people and cultures she cares about. Predictability, concrete communication, longstanding therapeutic relationships, firm boundaries, and a well-matched medication regimen have brought meaningful gains in anxiety and regulation.