NM_000217.3(KCNA1):c.44C>T (p.Ala15Val) AND Episodic ataxia type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 9, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002800709.4
Allele description [Variation Report for NM_000217.3(KCNA1):c.44C>T (p.Ala15Val)]
NM_000217.3(KCNA1):c.44C>T (p.Ala15Val)
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
-
ubiquitin-ribosomal protein eS31 fusion protein precursor [Homo sapiens]
ubiquitin-ribosomal protein eS31 fusion protein precursor [Homo sapiens]gi|208022622|ref|NP_001129064.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024