NM_005458.8(GABBR2):c.491C>A (p.Ala164Asp) AND Epileptic encephalopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003755173.2
Allele description [Variation Report for NM_005458.8(GABBR2):c.491C>A (p.Ala164Asp)]
NM_005458.8(GABBR2):c.491C>A (p.Ala164Asp)
Condition(s)
- Name:
- Epileptic encephalopathy
- Identifiers:
- MedGen: C0543888; Human Phenotype Ontology: HP:0200134
Assertion and evidence details
Last Updated: Sep 29, 2024