NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) AND Neurodevelopmental disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001778647.2
Allele description [Variation Report for NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)]
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)
Condition(s)
- Name:
- Neurodevelopmental disorder
- Identifiers:
- MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926
Assertion and evidence details
Last Updated: Apr 15, 2024