NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Dec 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000225898.7
Allele description [Variation Report for NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys)]
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), transcript variant ...
Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), transcript variant 3, mRNAgi|1677499936|ref|NM_001300987.2|Nucleotide
-
sulfoquinovosyl transferase SQD2 isoform X2 [Glycine max]
sulfoquinovosyl transferase SQD2 isoform X2 [Glycine max]gi|955331144|ref|XP_014633489.1|Protein
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Last Updated: Oct 26, 2024