NM_004415.4(DSP):c.3140C>T (p.Ala1047Val) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003531932.1
Allele description [Variation Report for NM_004415.4(DSP):c.3140C>T (p.Ala1047Val)]
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
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Lepophidium profundorum isolate MM12 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrialgi|1788585421|gb|MN883256.1|Nucleotide
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D330023K18Rik RIKEN cDNA D330023K18 gene [Mus musculus]
D330023K18Rik RIKEN cDNA D330023K18 gene [Mus musculus]Gene ID:320973Gene
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Last Updated: Sep 29, 2024