NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001180243.12
Allele description [Variation Report for NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile)]
NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
CLASP1 cytoplasmic linker associated protein 1 [Homo sapiens]
CLASP1 cytoplasmic linker associated protein 1 [Homo sapiens]Gene ID:23332Gene
-
Gene Links for Nucleotide (Select 2462571358) (1)
Gene
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Last Updated: May 19, 2024