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.6729dup
- Report protein consequence
- p.Asp2244Argfs*7
- Zygosity
- Heterozygous
- Molecular consequence
- Frameshift with premature termination
- Laboratory classification
- Pathogenic
- Classification source
- Original report reviewed
- Inheritance
- De novo
- Relevant additional finding
- Inherited 16p12.2 deletion; contribution unresolved
- Normalized MANE/map notation
- NM_018489.3:c.6729dup · NP_060959.2:p.Asp2244Argfs*7
- Variant type
- Frameshift
- Sex
- Male
- Age group
- Ages 21–25
- Protein position
- First altered residue · aa 2,244
Approved public summary
He is a young adult man whose understanding developed well ahead of his ability to speak. He is left-handed and communicates most often in partial sentences, with longer sentences available on better days. He has attended specialist education throughout his life and continued into a supported college setting, including several years focused on independent living and a later pathway-to-independence program.