PRINTABLE CLINICIAN VIEW
Clinician orientation sheet
NM_018489.2:
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_018489.2:c.6502G>T
- Report protein consequence
- p.Glu2168*
- Zygosity
- Not stated
- Molecular consequence
- Nonsense / stop-gain
- Laboratory classification
- Pathogenic
- Classification source
- Original report reviewed
- Inheritance
- De novo
- Relevant additional finding
- Approximately 1 kb 1q42.11 loss involving NVL exon 20 — separate finding
- Normalized MANE/map notation
- NM_018489.3:c.6502G>T · NP_060959.2:p.Glu2168*
- Variant type
- Nonsense / stop-gain
- Sex
- Female
- Age group
- Ages 16–20
- Protein position
- Premature stop · aa 2,168
Approved public summary
She is a sweet, hardworking, tenacious young woman with a strong sense of style and an extraordinary eye for detail. She coordinates her clothing carefully, notices defects or things that are out of place almost immediately, and often approaches new experiences with more curiosity than fear. Her teachers have consistently praised her effort, her willingness to do what is asked, and the determination she brings to difficult work.