NM_001165963.4(SCN1A):c.5245G>A (p.Gly1749Arg) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001861426.6
Allele description [Variation Report for NM_001165963.4(SCN1A):c.5245G>A (p.Gly1749Arg)]
NM_001165963.4(SCN1A):c.5245G>A (p.Gly1749Arg)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024