PRINTABLE CLINICIAN VIEW
Clinician orientation sheet
p.Ser1635Cysfs*18
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.4902_4903del
- Report protein consequence
- p.Ser1635Cysfs*18
- Zygosity
- Heterozygous
- Molecular consequence
- Frameshift with premature termination
- Laboratory classification
- Pathogenic
- Classification source
- Original report reviewed
- Inheritance
- De novo
- Relevant additional finding
- Additional research WGS variants of uncertain significance: TSHZ3 c.1288G>A (p.Val430Ile), de novo; TNR c.719G>T (p.Ser240Ile), maternal; TNR c.574G>A (p.Glu192Lys), paternal
- Normalized MANE/map notation
- NM_018489.3:c.4902_4903del · NP_060959.2:p.Ser1635Cysfs*18
- Variant type
- Frameshift
- Sex
- Male
- Age group
- Ages 11–15
- Protein position
- First altered residue · aa 1,635
Approved public summary
A boy in the 11–15 age group with a gentle nature, a strong memory, and a lifelong history of developmental, communication, motor, oral, feeding, and sensory differences