NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) AND Severe myoclonic epilepsy in infancy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000378791.1
Allele description
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=)
Condition(s)
- Name:
- Severe myoclonic epilepsy in infancy (EIEE6)
- Synonyms:
- Epilepsy, Myoclonic, Infantile, Severe; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome); See all synonyms [MedGen]
- Identifiers:
- MedGen: C4551549; Orphanet: 33069; OMIM: 607208
Assertion and evidence details
Last Updated: May 31, 2020