• replaced

NM_004572.3(PKP2):c.1912C>T (p.Gln638Ter) AND Arrhythmogenic right ventricular cardiomyopathy, type 9

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000038189.4

Allele description

NM_004572.3(PKP2):c.1912C>T (p.Gln638Ter)

Gene:
PKP2:plakophilin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_004572.3(PKP2):c.1912C>T (p.Gln638Ter)
HGVS:
  • NC_000012.12:g.32822526G>A
  • NG_009000.1:g.79321C>T
  • NM_004572.3:c.1912C>T
  • NP_004563.2:p.Gln638Ter
  • LRG_398t1:c.1912C>T
  • LRG_398:g.79321C>T
  • LRG_398p1:p.Gln638Ter
  • NC_000012.11:g.32975460G>A
  • c.1912C>T
  • p.Gln638X
  • p.Q638*:CAG>TAG
Protein change:
Q638*
Links:
dbSNP: 397517012
NCBI 1000 Genomes Browser:
rs397517012
Molecular consequence:
  • NM_004572.3:c.1912C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy, type 9 (ARVD9)
Synonyms:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9
Identifiers:
MedGen: C1836906; OMIM: 609040

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000220021Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository (COGR)no assertion criteria provided
    Pathogenicgermlineclinical testing

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository (COGR), SCV000220021.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Oct 3, 2016