NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) AND Arrhythmogenic right ventricular cardiomyopathy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003996317.2
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:
- Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Synonyms:
- Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
- Identifiers:
- MONDO: MONDO:0016587; MeSH: D019571; MedGen: C0349788
-
Homo sapiens surfactant protein A2 (SFTPA2), mRNA
Homo sapiens surfactant protein A2 (SFTPA2), mRNAgi|148886695|ref|NM_001098668.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024