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
-
PREDICTED: Rattus norvegicus endothelin converting enzyme 1 (Ece1), transcript v...
PREDICTED: Rattus norvegicus endothelin converting enzyme 1 (Ece1), transcript variant X3, mRNAgi|2678947084|ref|XM_006239276.5|Nucleotide
-
Ophiomyxa vivipara isolate O5486MRsmt5501 cytochrome c oxidase subunit I (COI) g...
Ophiomyxa vivipara isolate O5486MRsmt5501 cytochrome c oxidase subunit I (COI) gene, partial cds; mitochondrialgi|566072727|gb|KF663299.1|Nucleotide
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Priacanthus blochii]
cytochrome oxidase subunit 1, partial (mitochondrion) [Priacanthus blochii]gi|2484106044|gb|WFS30575.1|Protein
-
Homo sapiens NSF attachment protein alpha (NAPA), transcript variant 3, non-codi...
Homo sapiens NSF attachment protein alpha (NAPA), transcript variant 3, non-coding RNAgi|1701961812|ref|NR_038457.2|Nucleotide
-
hypothetical protein, partial [Pongo abelii]
hypothetical protein, partial [Pongo abelii]gi|55725758|emb|CAH89660.1|Protein
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Last Updated: Sep 29, 2024