NM_000217.3(KCNA1):c.483G>A (p.Glu161=) AND Episodic ataxia type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002203774.6
Allele description [Variation Report for NM_000217.3(KCNA1):c.483G>A (p.Glu161=)]
NM_000217.3(KCNA1):c.483G>A (p.Glu161=)
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
-
carboxy terminal-processing peptidase [Chryseobacterium oryzae]
carboxy terminal-processing peptidase [Chryseobacterium oryzae]gi|2216363517|gnl|PRJNA820568|MTP08 0|gb|UOE38179.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024