NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) AND Cardiomyopathy
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Apr 8, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000776008.12
Allele description [Variation Report for NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)]
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
606811 (1)
OMIM
-
Mus musculus strain C57BL/6J clone rp23-358m4, complete sequence
Mus musculus strain C57BL/6J clone rp23-358m4, complete sequencegi|34365901|gnl|uoknor|rp23-358m4|g 40851.12|Nucleotide
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Last Updated: Oct 13, 2024