NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001192032.12
Allele description [Variation Report for NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg)]
NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
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Mus musculus aspartate beta-hydroxylase domain containing 2 (Asphd2), transcript...
Mus musculus aspartate beta-hydroxylase domain containing 2 (Asphd2), transcript variant 5, mRNAgi|1257171116|ref|NM_001357014.1|Nucleotide
-
Mus musculus retention in endoplasmic reticulum sorting receptor 1 (Rer1), mRNA
Mus musculus retention in endoplasmic reticulum sorting receptor 1 (Rer1), mRNAgi|13385881|ref|NM_026395.1|Nucleotide
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Last Updated: Oct 20, 2024