NM_003179.3(SYP):c.684G>A (p.Trp228Ter) AND Neurodevelopmental delay
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002274379.2
Allele description [Variation Report for NM_003179.3(SYP):c.684G>A (p.Trp228Ter)]
NM_003179.3(SYP):c.684G>A (p.Trp228Ter)
Condition(s)
- Name:
- Neurodevelopmental delay
- Identifiers:
- MedGen: C4022738; Human Phenotype Ontology: HP:0012758
Assertion and evidence details
Last Updated: Jun 23, 2024