NM_172107.4(KCNQ2):c.792C>A (p.Tyr264Ter) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001390661.6
Allele description [Variation Report for NM_172107.4(KCNQ2):c.792C>A (p.Tyr264Ter)]
NM_172107.4(KCNQ2):c.792C>A (p.Tyr264Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024