NM_004104.5(FASN):c.6347C>T (p.Ala2116Val) AND Epileptic encephalopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003828953.1
Allele description [Variation Report for NM_004104.5(FASN):c.6347C>T (p.Ala2116Val)]
NM_004104.5(FASN):c.6347C>T (p.Ala2116Val)
Condition(s)
- Name:
- Epileptic encephalopathy
- Identifiers:
- MedGen: C0543888; Human Phenotype Ontology: HP:0200134
Assertion and evidence details
Last Updated: Mar 5, 2024