NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002490340.2
Allele description [Variation Report for NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)]
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)
Condition(s)
- Name:
- Elevated circulating creatine kinase concentration
- Synonyms:
- HYPERCKEMIA, IDIOPATHIC; Elevated serum creatine phosphokinase; CAV3-Related Isolated HyperCKemia
- Identifiers:
- MONDO: MONDO:0007402; MedGen: C0241005; OMIM: 123320; Human Phenotype Ontology: HP:0003236
- Name:
- Hypertrophic cardiomyopathy 1
- Synonyms:
- Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600
- Name:
- Long QT syndrome 9 (LQT9)
- Identifiers:
- MONDO: MONDO:0012736; MedGen: C2678485; Orphanet: 101016; Orphanet: 768; OMIM: 611818
Assertion and evidence details
Last Updated: Sep 1, 2024