NM_001165963.4(SCN1A):c.3864CTT[1] (p.Phe1289del) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001385512.5
Allele description [Variation Report for NM_001165963.4(SCN1A):c.3864CTT[1] (p.Phe1289del)]
NM_001165963.4(SCN1A):c.3864CTT[1] (p.Phe1289del)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023