NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala) AND Severe myoclonic epilepsy in infancy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000986915.1
Allele description [Variation Report for NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala)]
NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala)
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
-
decarboxylase [Ectocarpus siliculosus]
decarboxylase [Ectocarpus siliculosus]gi|298715386|emb|CBJ27997.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Dec 24, 2023