NM_172107.4(KCNQ2):c.722T>C (p.Leu241Pro) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001894110.5
Allele description [Variation Report for NM_172107.4(KCNQ2):c.722T>C (p.Leu241Pro)]
NM_172107.4(KCNQ2):c.722T>C (p.Leu241Pro)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024