NM_001035.3(RYR2):c.3217G>A (p.Ala1073Thr) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 11, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001177847.3
Allele description [Variation Report for NM_001035.3(RYR2):c.3217G>A (p.Ala1073Thr)]
NM_001035.3(RYR2):c.3217G>A (p.Ala1073Thr)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Mus musculus RAD50 interactor 1, mRNA (cDNA clone MGC:178829 IMAGE:9053821), com...
Mus musculus RAD50 interactor 1, mRNA (cDNA clone MGC:178829 IMAGE:9053821), complete cdsgi|219841961|gb|BC145267.1|Nucleotide
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Last Updated: May 7, 2024