NM_001372044.2(SHANK3):c.3134_3149dup (p.Pro1051fs) AND Intellectual disability
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 25, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000224952.2
Allele description [Variation Report for NM_001372044.2(SHANK3):c.3134_3149dup (p.Pro1051fs)]
NM_001372044.2(SHANK3):c.3134_3149dup (p.Pro1051fs)
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: Oct 21, 2023