NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala) AND Cardiomyopathy
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Mar 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001170256.14
Allele description [Variation Report for NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala)]
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
nocturnin isoform X1 [Danio rerio]
nocturnin isoform X1 [Danio rerio]gi|68433741|ref|XP_700794.1|Protein
-
Chaperone DnaJ-domain superfamily protein [Arabidopsis thaliana]
Chaperone DnaJ-domain superfamily protein [Arabidopsis thaliana]gi|30680384|ref|NP_849977.1|Protein
-
Gm21820 AND (alive[prop]) (2)
Gene
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Last Updated: Oct 13, 2024