NM_016148.5(SHANK1):c.2137C>T (p.Arg713Ter) AND Intellectual disability
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002287506.2
Allele description [Variation Report for NM_016148.5(SHANK1):c.2137C>T (p.Arg713Ter)]
NM_016148.5(SHANK1):c.2137C>T (p.Arg713Ter)
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: Dec 24, 2023