NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=) AND Hereditary episodic ataxia
- Germline classification:
- Likely 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:
- RCV000313389.6
Allele description [Variation Report for NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=)]
NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=)
Condition(s)
- Name:
- Hereditary episodic ataxia
- Synonyms:
- Episodic ataxia; EA syndrome; Episodic Ataxia syndrome
- Identifiers:
- MONDO: MONDO:0016227; MedGen: C1720189; Orphanet: 211062; OMIM: PS160120; Human Phenotype Ontology: HP:0002131
-
Gordonia humi partial 16S rRNA gene, type strain CC-12301T
Gordonia humi partial 16S rRNA gene, type strain CC-12301Tgi|262204774|emb|FN561544.1|Nucleotide
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Last Updated: Sep 16, 2024