NM_004104.5(FASN):c.3517C>T (p.Pro1173Ser) AND Epileptic encephalopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003864127.2
Allele description [Variation Report for NM_004104.5(FASN):c.3517C>T (p.Pro1173Ser)]
NM_004104.5(FASN):c.3517C>T (p.Pro1173Ser)
Condition(s)
- Name:
- Epileptic encephalopathy
- Identifiers:
- MedGen: C0543888; Human Phenotype Ontology: HP:0200134
Assertion and evidence details
Last Updated: Jun 23, 2024