NM_001005242.3(PKP2):c.*683T>C AND Arrhythmogenic right ventricular dysplasia 9
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000382702.5
Allele description [Variation Report for NM_001005242.3(PKP2):c.*683T>C]
NM_001005242.3(PKP2):c.*683T>C
Condition(s)
- Name:
- Arrhythmogenic right ventricular dysplasia 9 (ARVD9)
- Synonyms:
- ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; Arrhythmogenic right ventricular cardiomyopathy, type 9; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9
- Identifiers:
- MONDO: MONDO:0012180; MedGen: C1836906; OMIM: 609040
-
Homo sapiens tetratricopeptide repeat domain 4 (TTC4), transcript variant 1, mRN...
Homo sapiens tetratricopeptide repeat domain 4 (TTC4), transcript variant 1, mRNAgi|1519244549|ref|NM_004623.5|Nucleotide
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Last Updated: Dec 24, 2023