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.6436C>T
- Report protein consequence
- p.Arg2146*
- Zygosity
- Heterozygous
- Molecular consequence
- Nonsense / stop-gain
- Laboratory classification
- Pathogenic
- Classification source
- Original report reviewed
- Inheritance
- De novo
- Relevant additional finding
- No secondary findings reported
- Normalized MANE/map notation
- NM_018489.3:c.6436C>T · NP_060959.2:p.Arg2146*
- Variant type
- Nonsense / stop-gain
- Sex
- Female
- Age group
- Ages 1–5
- Protein position
- Premature stop · aa 2,146
Approved public summary
A warm, determined preschool-age girl with a highly variable history across development, communication, growth, feeding, bowel function, movement, vision, sensory regulation, spells, sleep, temperature, and medication response