RGD:13478786 Rat Genome Database

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Variant: RGD:13478786 -  Homo sapiens

RGD ID: 13478786
RS ID: rs1555143143
ClinVar ID: CV444980
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 32,977,098
GRCh38 12 32,824,164
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_398t1:c.1689-2A>G
LRG_398:g.77683A>G
NC_000012.12:g.32824164T>C
NC_000012.11:g.32977098T>C
More... 		05/18/2017 splice acceptor variant pathogenic|likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 9; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PKP2
Accession:NM_001407159
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407156
Location:INTRON

Gene Symbol:PKP2
Accession:NM_004572
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407160
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407162
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407158
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001005242
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407155
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407157
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407161
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15489853   PMID:16199547   PMID:19863551   PMID:20400443   PMID:23911551   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000520771 CLINVAR
  RCV000530347 CLINVAR
dbSNP (RS) rs1555143143 CLINVAR
MedGen C1836906 CLINVAR
  C3661900 CLINVAR
NCBI Gene PKP2 CLINVAR
OMIM 602861 CLINVAR
  609040 CLINVAR