PRINTABLE CLINICIAN VIEW
Clinician orientation sheet
ENST00000392403:
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
- ENST00000392403:c.2845delG
- Report protein consequence
- p.Asp949Metfs*11
- Zygosity
- Heterozygous
- Molecular consequence
- Frameshift with premature termination
- Laboratory classification
- Pathogenic
- Classification source
- Original report reviewed
- Inheritance
- Not established
- Relevant additional finding
- No pathogenic copy-number or recognized deleterious mitochondrial finding reported
- Normalized MANE/map notation
- NM_018489.3:c.2845delG · NP_060959.2:p.Asp949Metfs*11
- Variant type
- Frameshift
- Sex
- Female
- Age group
- Ages 21–25
- Protein position
- First altered residue · aa 949
Approved public summary
A woman in the 21–25 age group with early motor and language delays, important school and social strengths in childhood, epilepsy beginning at school age, later falls or fainting episodes, a severe period of functional loss and recovery, and ongoing neurologic, immune, and endocrine questions.