RGD:34888663 Rat Genome Database

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Variant: RGD:34888663 -  Homo sapiens

RGD ID: 34888663
RS ID: rs371719724
ClinVar ID: CV916463
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 32,996,258
GRCh38 12 32,843,324
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.32843324G>T
NM_001005242.3:c.1379-2119C>A
LRG_398:g.58523C>A
NG_009000.1:g.58523C>A
More... 		04/20/2019 intron variant likely benign Cardiomyopathies
Disease Annotations     Click to see Annotation Detail View
cardiomyopathy  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:PKP2
Accession:NM_001407155
Location:INTRON

Gene Symbol:PKP2
Accession:NM_004572
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407160
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407161
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407162
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407159
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407157
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001005242
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407156
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407158
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001180846 CLINVAR
dbSNP (RS) rs371719724 CLINVAR
MedGen C0878544 CLINVAR
NCBI Gene PKP2 CLINVAR
OMIM 602861 CLINVAR
SNOMED CT 85898001 CLINVAR