NM_000217.3(KCNA1):c.1061C>T (p.Ser354Leu) AND Episodic ataxia type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001986183.5
Allele description
NM_000217.3(KCNA1):c.1061C>T (p.Ser354Leu)
Condition(s)
- Name:
- Episodic ataxia type 1 (EA1)
- Synonyms:
- ATAXIA, EPISODIC, WITH MYOKYMIA; MYOKYMIA WITH PERIODIC ATAXIA; PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008047; MedGen: C1719788; Orphanet: 972; OMIM: 160120
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Last Updated: Jun 29, 2024