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.1043C>G
- Report protein consequence
- p.Pro348Arg
- Zygosity
- Heterozygous
- Molecular consequence
- Missense
- Laboratory classification
- Variant of uncertain significance
- Classification source
- Original report reviewed
- Inheritance
- Not established
- Relevant additional finding
- No additional pathogenic or likely pathogenic finding reported
- Normalized MANE/map notation
- NM_018489.3:c.1043C>G · NP_060959.2:p.Pro348Arg
- Variant type
- Missense
- Sex
- Male
- Age group
- Ages 6–10
- Protein position
- Amino-acid substitution · aa 348
Approved public summary
A boy in the 6–10 age group with developmental and communication differences, autism, difficult-to-control epilepsy, sleep requiring medication, a major episode of lost leg movement followed by recovery of walking, persistent gait and leg-pain concerns, early color-restricted eating, ongoing oral pain and gum bleeding, constipation, heat-associated seizure worsening, and nail changes.