NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) AND Cardiomyopathy
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jun 11, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000769516.12
Allele description [Variation Report for NM_001943.5(DSG2):c.2587A>C (p.Met863Leu)]
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
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Penicillium ucsense strain S1M29, whole genome shotgun sequencing project
Penicillium ucsense strain S1M29, whole genome shotgun sequencing projectgi|1913036437|gb|WIWV00000000.1|WIW 0000Nucleotide
-
Psl lectin [Pisum sativum]
Psl lectin [Pisum sativum]gi|20804|emb|CAA47011.1|Protein
-
Chain D, PEA LECTIN, BETA CHAIN
Chain D, PEA LECTIN, BETA CHAINgi|230615|pdb|2LTN|DProtein
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Last Updated: Oct 26, 2024