NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) AND Cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 9, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001176347.3
Allele description [Variation Report for NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)]
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Rattus norvegicus pancreatic and duodenal homeobox 1 (Pdx1), mRNA
Rattus norvegicus pancreatic and duodenal homeobox 1 (Pdx1), mRNAgi|1935010090|ref|NM_022852.4|Nucleotide
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Last Updated: Sep 29, 2024