NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) AND Cardiovascular phenotype
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000621657.4
Allele description [Variation Report for NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)]
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
proteasome subunit beta type-8 isoform E2 precursor [Homo sapiens]
proteasome subunit beta type-8 isoform E2 precursor [Homo sapiens]gi|73747875|ref|NP_683720.2|Protein
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Last Updated: Aug 4, 2024