NM_001127222.2(CACNA1A):c.4094T>A (p.Val1365Glu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001957933.4
Allele description [Variation Report for NM_001127222.2(CACNA1A):c.4094T>A (p.Val1365Glu)]
NM_001127222.2(CACNA1A):c.4094T>A (p.Val1365Glu)
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
-
Homo sapiens TPX2, microtubule-associated protein homolog (Xenopus laevis) (TPX2...
Homo sapiens TPX2, microtubule-associated protein homolog (Xenopus laevis) (TPX2), mRNAgi|31542258|ref|NM_012112.3|Nucleotide
-
Sec71 Secretory 71 [Drosophila melanogaster]
Sec71 Secretory 71 [Drosophila melanogaster]Gene ID:34785Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024