NM_033305.3(VPS13A):c.8737G>A (p.Ala2913Thr) AND Chorea-acanthocytosis
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003233252.2
Allele description [Variation Report for NM_033305.3(VPS13A):c.8737G>A (p.Ala2913Thr)]
NM_033305.3(VPS13A):c.8737G>A (p.Ala2913Thr)
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
-
DNA topoisomerase I [Fistulifera solaris]
DNA topoisomerase I [Fistulifera solaris]gi|1210522534|dbj|GAX18547.1||gnl|W SP|GAX18547Protein
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024