RGD:41408287 Rat Genome Database

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Variant: RGD:41408287 -  Homo sapiens

RGD ID: 41408287
RS ID: rs779082302
ClinVar ID: CV980831
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 32,994,140
GRCh38 12 32,841,206
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_398t1:c.1511-1G>C
LRG_398:g.60641G>C
NG_009000.1:g.60641G>C
NC_000012.12:g.32841206C>G
More... 		12/27/2020 splice acceptor variant pathogenic 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_001407162
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407160
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407157
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407156
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407155
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407158
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001005242
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407159
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407161
Location:INTRON

Gene Symbol:PKP2
Accession:NM_004572
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001281667 CLINVAR
dbSNP (RS) rs779082302 CLINVAR
MedGen C0878544 CLINVAR
NCBI Gene PKP2 CLINVAR
OMIM 602861 CLINVAR
SNOMED CT 85898001 CLINVAR