NM_001005242.3(PKP2):c.2131A>T (p.Asn711Tyr) AND Arrhythmogenic right ventricular cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004008153.2
Allele description [Variation Report for NM_001005242.3(PKP2):c.2131A>T (p.Asn711Tyr)]
NM_001005242.3(PKP2):c.2131A>T (p.Asn711Tyr)
Condition(s)
- Name:
- Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Synonyms:
- Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
- Identifiers:
- MONDO: MONDO:0016587; MeSH: D019571; MedGen: C0349788
-
ferredoxin hydrogenase [Clostridium gasigenes]
ferredoxin hydrogenase [Clostridium gasigenes]gi|1829801353|ref|WP_167866977.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024