NM_000256.3(MYBPC3):c.1474G>C (p.Glu492Gln) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003747824.2
Allele description [Variation Report for NM_000256.3(MYBPC3):c.1474G>C (p.Glu492Gln)]
NM_000256.3(MYBPC3):c.1474G>C (p.Glu492Gln)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), transcript variant 5, n...
Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), transcript variant 5, non-coding RNAgi|1701947377|ref|NR_136152.2|Nucleotide
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Last Updated: Sep 29, 2024