NM_033305.3(VPS13A):c.2512+116A>G AND Chorea-acanthocytosis
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001544009.2
Allele description [Variation Report for NM_033305.3(VPS13A):c.2512+116A>G]
NM_033305.3(VPS13A):c.2512+116A>G
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
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Furvibacter sp. 9RSW-1 16S ribosomal RNA gene, partial sequence
Furvibacter sp. 9RSW-1 16S ribosomal RNA gene, partial sequencegi|152963903|gb|EF657840.1|Nucleotide
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(txid2919321[Organism:noexp]) AND biosample_sra[filter] (4)
BioSample
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PopSet Links for Nucleotide (Select 1169413638) (1)
PopSet
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Zeugodacus cucurbitae cytochrome c oxidase subunit 1 (COI) gene, partial cds; mi...
Zeugodacus cucurbitae cytochrome c oxidase subunit 1 (COI) gene, partial cds; mitochondrial.PopSet: 1169413552PopSet
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Taxonomy Links for Protein (Select 51105838) (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023