NM_001127222.2(CACNA1A):c.4756-97G>A AND Episodic ataxia type 2
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001554643.2
Allele description [Variation Report for NM_001127222.2(CACNA1A):c.4756-97G>A]
NM_001127222.2(CACNA1A):c.4756-97G>A
Condition(s)
- Name:
- Episodic ataxia type 2 (EA2)
- Synonyms:
- Episodic ataxia with nystagmus; Nystagmus-associated episodic ataxia; Cerebellopathy, hereditary paroxysmal; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007163; MedGen: C1720416; Orphanet: 97; OMIM: 108500
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cytochrome oxidase subunit 1, partial (mitochondrion) [Pimelodella aff. vittata]
cytochrome oxidase subunit 1, partial (mitochondrion) [Pimelodella aff. vittata]gi|2624869966|gb|WPO01340.1|Protein
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Apanteles sp. jft02 voucher BIOUG<CAN>:07PROBE-22412 cytochrome oxidase subunit ...
Apanteles sp. jft02 voucher BIOUG<CAN>:07PROBE-22412 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|292396387|gnl|uoguelph|ASWAV953- I-5P|gb|GU141061.1|Nucleotide
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cytochrome oxidase subunit 1, partial (mitochondrion) [Apanteles sp. jft02]
cytochrome oxidase subunit 1, partial (mitochondrion) [Apanteles sp. jft02]gi|229425714|gb|ACQ64240.1|Protein
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Last Updated: Sep 29, 2024