NM_001943.5(DSG2):c.2750C>A (p.Ala917Glu) AND Arrhythmogenic right ventricular cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004016026.2
Allele description [Variation Report for NM_001943.5(DSG2):c.2750C>A (p.Ala917Glu)]
NM_001943.5(DSG2):c.2750C>A (p.Ala917Glu)
Condition(s)
- Name:
- Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Synonyms:
- Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
- Identifiers:
- MONDO: MONDO:0016587; MeSH: D019571; MedGen: C0349788
-
endoplasmic reticulum chaperone BiP precursor [Rattus norvegicus]
endoplasmic reticulum chaperone BiP precursor [Rattus norvegicus]gi|25742763|ref|NP_037215.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024