NM_004415.4(DSP):c.2540C>T (p.Pro847Leu) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001188627.2
Allele description [Variation Report for NM_004415.4(DSP):c.2540C>T (p.Pro847Leu)]
NM_004415.4(DSP):c.2540C>T (p.Pro847Leu)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
CM3-MT0193-151200-569-b01 MT0193 Homo sapiens cDNA, mRNA sequence
CM3-MT0193-151200-569-b01 MT0193 Homo sapiens cDNA, mRNA sequencegi|12294430|gnl|dbEST|7475321|gb|BF 1.1|Nucleotide
-
CM2-NT0185-090101-587-h02 NT0185 Homo sapiens cDNA, mRNA sequence
CM2-NT0185-090101-587-h02 NT0185 Homo sapiens cDNA, mRNA sequencegi|14443773|gnl|dbEST|8803539|gb|BI 7.1|Nucleotide
-
4-hydroxybenzoyl-CoA thioesterase [Pseudomonas frederiksbergensis]
4-hydroxybenzoyl-CoA thioesterase [Pseudomonas frederiksbergensis]gi|1132398167|gnl|PRJNA343270|PFAS1 5|gb|APV40322.1|Protein
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Last Updated: Sep 29, 2024