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.1892_1893del
- Report protein consequence
- p.Lys631Argfs*4
- Zygosity
- Heterozygous
- Molecular consequence
- Frameshift with premature termination
- Laboratory classification
- Likely pathogenic
- Classification source
- Original report reviewed
- Inheritance
- Not established
- Inheritance source
- Original report reviewed
- Parental testing
- The variant was not detected in her mother; her father's result has not been reported, so inheritance remains unresolved.
- Relevant additional finding
- Eight heterozygous other findings were reported; none was interpreted as establishing a second molecular diagnosis
- Normalized MANE/map notation
- NM_018489.3:c.1892_1893del · NP_060959.2:p.Lys631Argfs*4
- Variant type
- Frameshift
- Sex
- Female
- Age group
- Ages 16–20
- Protein position
- First altered residue · aa 631
Approved public summary
A girl in the 16–20 age group. An adult woman in the 16–20 age group whose lifelong history includes developmental, learning, memory, sleep, muscle-tone, energy, hunger-awareness, pain-expression, and emotional-health differences. She also reads and writes, studies graphic design, uses computers confidently, has developed friendships, has participated in equestrian activities since childhood, and wants belonging, community, relationships, and a fuller adult life.