RGD:11092289 Rat Genome Database

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Variant: RGD:11092289 -  Homo sapiens

RGD ID: 11092289
RS ID: rs369518480
ClinVar ID: CV230313
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 32,996,157
GRCh38 12 32,843,223
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.1379-2018G>A
LRG_398:g.58624G>A
NG_009000.1:g.58624G>A
NC_000012.12:g.32843223C>T
More... 		12/05/2021 intron variant likely benign|uncertain significance AllHighlyPenetrant; Arrhythmogenic right ventricular cardiomyopathy, type 9; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9; Cardiomyopathies
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:PKP2
Accession:NM_001407157
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 490
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSGRGGQTVKSLRIQEQVQQTLARKGRSSVGNGNLHRT
SSVPEYVYNLHLVENDFVGGRSPVPKTYDMLKAGTTATYEGRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAH
YTHSDYQYSQRSQAGHTLHHQESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQHGSVSDTVFDSIPANPAL
LTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVPLQPVTQNRASRSSWHQSSFHSTRTLREAGPSVAVDSSGRRAHLT
VGQAAAGGSGNLLTERSTFTDSQLGNADMEMTLERAVSMLEADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILKL
LQLLKVQNEDVQRAVCGALRNLVFEDNDNKLEVAELNGVPRLLQVLKQTRDLETKKQITDHTVNLRSRNGWPGAVAHACN
PSTLGGQGGQITRSGVRDQPDQHGLLWNLSSNDKLKNLMITEALLTLTENIIIPFSGWPEGDYPKANGLLDFDIFYNVTG
CLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPDDKATENCVCILHNLSYQLEAELPEKYSQNIYIQNRNIQTD
NNKSIGCFGSRSRKVKEQYQDVPMPEEKSNPKGVEWLWHSIVIRMYLSLIAKSVRNYTQEASLGALQNLTAGSGPVSIGP
DFLLFKIMIL*

Gene Symbol:PKP2
Accession:NM_004572
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 490
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSGRGGQTVKSLRIQEQVQQTLARKGRSSVGNGNLHRT
SSVPEYVYNLHLVENDFVGGRSPVPKTYDMLKAGTTATYEGRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAH
YTHSDYQYSQRSQAGHTLHHQESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQHGSVSDTVFDSIPANPAL
LTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVPLQPVTQNRASRSSWHQSSFHSTRTLREAGPSVAVDSSGRRAHLT
VGQAAAGGSGNLLTERSTFTDSQLGNADMEMTLERAVSMLEADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILKL
LQLLKVQNEDVQRAVCGALRNLVFEDNDNKLEVAELNGVPRLLQVLKQTRDLETKKQITDHTVNLRSRNGWPGAVAHACN
PSTLGGQGGQITRSGVRDQPDQHGLLWNLSSNDKLKNLMITEALLTLTENIIIPFSGWPEGDYPKANGLLDFDIFYNVTG
CLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPDDKATENCVCILHNLSYQLEAELPEKYSQNIYIQNRNIQTD
NNKSIGCFGSRSRKVKEQYQDVPMPEEKSNPKGVEWLWHSIVIRMYLSLIAKSVRNYTQEASLGALQNLTAGSGPMPTSV
AQTVVQKESGLQHTRKMLHVGDPSVKKTAISLLRNLSRNLSLQNEIAKETLPDLVSIIPDTVPSTDLLIETTASACYTLN
NIIQNSYQNARDLLNTGGIQKIMAISAGDAYASNKASKAASVLLYSLWAHTELHHAYKKAQFKKTDFVNSRTAKAYHSLK
D*

Gene Symbol:PKP2
Accession:NM_001005242
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407159
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407155
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407160
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407162
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407161
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407158
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407156
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532   PMID:29247119  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000218353 CLINVAR
  RCV000640002 CLINVAR
  RCV001175623 CLINVAR
  RCV002390585 CLINVAR
dbSNP (RS) rs369518480 CLINVAR
MedGen C0878544 CLINVAR
  C1836906 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene PKP2 CLINVAR
OMIM 602861 CLINVAR
  609040 CLINVAR
SNOMED CT 85898001 CLINVAR