NM_000217.3(KCNA1):c.1296C>G (p.Ser432=) AND Episodic ataxia
- 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:
- RCV000391597.1
Allele description
NM_000217.3(KCNA1):c.1296C>G (p.Ser432=)
Condition(s)
- Name:
- Episodic ataxia (EA)
- Synonyms:
- EA syndrome; Episodic Ataxia syndrome; Paroxysmal ataxia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016227; MedGen: C1720189; Orphanet: 211062; OMIM: PS160120; Human Phenotype Ontology: HP:0002131
Assertion and evidence details
Last Updated: May 4, 2020