NM_001165963.4(SCN1A):c.3692G>C (p.Ser1231Thr) AND Severe myoclonic epilepsy in infancy
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000059495.1
Allele description [Variation Report for NM_001165963.4(SCN1A):c.3692G>C (p.Ser1231Thr)]
NM_001165963.4(SCN1A):c.3692G>C (p.Ser1231Thr)
Condition(s)
- Name:
- Severe myoclonic epilepsy in infancy (DRVT)
- Synonyms:
- Epilepsy, Myoclonic, Infantile, Severe; Dravet syndrome; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208
-
Unc-119 homolog (C. elegans) [Mus musculus]
Unc-119 homolog (C. elegans) [Mus musculus]gi|12805067|gb|AAH01990.1|Protein
-
PREDICTED: Mus musculus transmembrane protein 63c (Tmem63c), transcript variant ...
PREDICTED: Mus musculus transmembrane protein 63c (Tmem63c), transcript variant X15, mRNAgi|1039740193|ref|XM_006515725.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023