RGD:28910554 Rat Genome Database

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Variant: RGD:28910554 -  Homo sapiens

RGD ID: 28910554
RS ID: rs1956071585
ClinVar ID: CV869729
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 32,944,929
GRCh38 12 32,791,995
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_398:g.109852A>T
LRG_398t1:c.*429A>T
NM_001005242.3:c.*429A>T
NG_009000.1:g.109852A>T
More... 		01/12/2018 3 prime utr variant uncertain significance 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_001407156
Location:3UTRS;EXON

Gene Symbol:PKP2
Accession:NM_001407158
Location:3UTRS;EXON

Gene Symbol:PKP2
Accession:NM_001407160
Location:3UTRS;EXON

Gene Symbol:PKP2
Accession:NM_001005242
Location:3UTRS;EXON

Gene Symbol:PKP2
Accession:NM_004572
Location:3UTRS;EXON

Gene Symbol:PKP2
Accession:NM_001407155
Location:3UTRS;EXON

Gene Symbol:PKP2
Accession:NM_001407159
Location:3UTRS;EXON

Gene Symbol:PKP2
Accession:NM_001407162
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407157
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407161
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001109272 CLINVAR
dbSNP (RS) rs1956071585 CLINVAR
MedGen C1836906 CLINVAR
NCBI Gene PKP2 CLINVAR
OMIM 602861 CLINVAR
  609040 CLINVAR