NM_004172.5(SLC1A3):c.*552_*553del 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:
- RCV000297194.5
Allele description [Variation Report for NM_004172.5(SLC1A3):c.*552_*553del]
NM_004172.5(SLC1A3):c.*552_*553del
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
Assertion and evidence details
Last Updated: Apr 9, 2023