NM_033305.3(VPS13A):c.1824A>G (p.Pro608=) AND Chorea-acanthocytosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 13, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001271519.1
Allele description [Variation Report for NM_033305.3(VPS13A):c.1824A>G (p.Pro608=)]
NM_033305.3(VPS13A):c.1824A>G (p.Pro608=)
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
-
arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 1 [Mu...
arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 1 [Mus musculus]gi|30017461|ref|NP_835220.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024