NM_001005242.3(PKP2):c.2338G>A (p.Ala780Thr) AND Cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001191053.2
Allele description [Variation Report for NM_001005242.3(PKP2):c.2338G>A (p.Ala780Thr)]
NM_001005242.3(PKP2):c.2338G>A (p.Ala780Thr)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
PREDICTED: Chlorocebus sabaeus ubiquitin conjugating enzyme E2 Q1 (UBE2Q1), mRNA
PREDICTED: Chlorocebus sabaeus ubiquitin conjugating enzyme E2 Q1 (UBE2Q1), mRNAgi|1938824139|ref|XM_007976976.2|Nucleotide
-
LOW QUALITY PROTEIN: ubiquitin-conjugating enzyme E2 Q1 [Chlorocebus sabaeus]
LOW QUALITY PROTEIN: ubiquitin-conjugating enzyme E2 Q1 [Chlorocebus sabaeus]gi|635104612|ref|XP_007975167.1|Protein
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Last Updated: Nov 5, 2022