NM_001943.5(DSG2):c.2257G>T (p.Ala753Ser) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001525276.2
Allele description [Variation Report for NM_001943.5(DSG2):c.2257G>T (p.Ala753Ser)]
NM_001943.5(DSG2):c.2257G>T (p.Ala753Ser)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
chrna1 [Cyprinodon tularosa]
chrna1 [Cyprinodon tularosa]Gene ID:119783906Gene
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Last Updated: Dec 24, 2023