NM_033305.3(VPS13A):c.1269T>C (p.Asp423=) AND Chorea-acanthocytosis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001276362.1
Allele description [Variation Report for NM_033305.3(VPS13A):c.1269T>C (p.Asp423=)]
NM_033305.3(VPS13A):c.1269T>C (p.Asp423=)
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
-
Rattus norvegicus regulator of microtubule dynamics 3 (Rmdn3), mRNA
Rattus norvegicus regulator of microtubule dynamics 3 (Rmdn3), mRNAgi|158262038|ref|NM_001014046.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024