NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001858044.4
Allele description [Variation Report for NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu)]
NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu)
Condition(s)
- Name:
- Episodic ataxia type 2 (EA2)
- Synonyms:
- Episodic ataxia with nystagmus; Nystagmus-associated episodic ataxia; Cerebellopathy, hereditary paroxysmal; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007163; MedGen: C1720416; Orphanet: 97; OMIM: 108500
Assertion and evidence details
Last Updated: Sep 29, 2024