NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) AND Intellectual disability
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001252481.10
Allele description [Variation Report for NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)]
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)
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
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Homologene neighbors for GEO Profiles (Select 123011587) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 123020825) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 123017215) (200)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 122997929) (19)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 123026117) (20)
GEO Profiles
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Last Updated: Oct 20, 2024