RGD:127248067 Rat Genome Database

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Variant: RGD:127248067 -  Homo sapiens

RGD ID: 127248067
RS ID: rs2137774389
ClinVar ID: CV1056083
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 32,974,464
GRCh38 12 32,821,530
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005242.3:c.1840-1G>C
NG_009000.1:g.80317G>C
NM_004572.4:c.1972-1G>C
LRG_398:g.80317G>C
More... 		01/18/2020 splice acceptor variant likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 9; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PKP2
Accession:NM_001005242
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407155
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407162
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407161
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407160
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407157
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407158
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407159
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407156
Location:INTRON

Gene Symbol:PKP2
Accession:NM_004572
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001377890 CLINVAR
dbSNP (RS) rs2137774389 CLINVAR
MedGen C1836906 CLINVAR
NCBI Gene PKP2 CLINVAR
OMIM 602861 CLINVAR
  609040 CLINVAR