NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) AND Cardiomyopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 28, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000770234.2
Allele description [Variation Report for NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)]
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Gigantiform cementoma
Gigantiform cementomaMedGen
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Multiple Osteochondromas
Multiple OsteochondromasMedGen
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Last Updated: Aug 11, 2024