NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val) AND Intellectual disability
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 20, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001257708.2
Allele description [Variation Report for NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val)]
NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val)
Condition(s)
- Name:
- Intellectual disability
- Synonyms:
- Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
- Identifiers:
- MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
Assertion and evidence details
Last Updated: May 1, 2024