NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=) AND Chorea-acanthocytosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000318802.5
Allele description [Variation Report for NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=)]
NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=)
Condition(s)
- Name:
- Chorea-acanthocytosis
- Synonyms:
- Choreoacanthocytosis; Acanthocytosis with neurologic disorder; Levine-Critchley syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008695; MedGen: C0393576; Orphanet: 2388; OMIM: 200150
Assertion and evidence details
Last Updated: Mar 5, 2024