RGD:11619502 Rat Genome Database

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Variant: RGD:11619502 -  Homo sapiens

RGD ID: 11619502
RS ID: rs754465954
ClinVar ID: CV324555
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 32,945,317
GRCh38 12 32,792,383
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_398t1:c.*41G>A
LRG_398:g.109464G>A
NG_009000.1:g.109464G>A
NC_000012.12:g.32792383C>T
More... 		01/13/2018 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_001005242
Location:3UTRS;EXON

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

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

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

Gene Symbol:PKP2
Accession:NM_001407156
Location:3UTRS;EXON

Gene Symbol:PKP2
Accession:NM_001407160
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 680
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKAGTTATYEGRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAHYTHSDYQYSQRSQAGHTLHHQESRRAALL
VPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQHGSVSDTVFDSIPANPALLTYPRPGTSRSMGNLLEKENYLTAGLTVG
QVRPLVPLQPVTQNRASRSSWHQSSFHSTRTLREAGPSVAVDSSGRRAHLTVGQAAAGGSGNLLTERSTFTDSQLGNADM
EMTLERAVSMLEADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILKLLQLLKVQNEDVQRAVCGALRNLVFEDNDN
KLEVAELNGVPRLLQVLKQTRDLETKKQITGLLWNLSSNDKLKNLMITEALLTLTENIIIPFSGWPEGDYPKANGLLDFD
IFYNVTGCLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPDDKATENCVCILHNLSYQLEAELPEKYSQNIYIQ
NRNIQTDNNKSIGCFGSRSRKVKEQYQDVPMPEEKSNPKGVEWLWHSIVIRMYLSLIAKSVRNYTQEASLGALQNLTAGS
GPMPTSVAQTVVQKESGLQHTRKMLHVGDPSVKKTAISLLRNLSRNLSLQNEIAMPPTKQVKLLPSFCILCGHTRNCIMP
TRRLSLRRQILSTAGLPKPTTPLKTEENDKVFSAAKIPKRKHLFFYYPAQETSKACLVSILLYFRGPLNPENK*

Gene Symbol:PKP2
Accession:NM_001407155
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 789
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSGRGGQTVKSLRIQEQVQQTLARKGRSSVGNGNLHRT
SSVPEYVYNLHLVENDFVGGRSPVPKTYDMLKAGTTATYEGRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAH
YTHSDYQYSQRSQAGHTLHHQESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQHGSVSDTVFDSIPANPAL
LTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVPLQPVTQNRASRSSWHQSSFHSTRTLREAGPSVAVDSSGRRAHLT
VGQAAAGGSGNLLTERSTFTDSQLGNADMEMTLERAVSMLEADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILKL
LQLLKVQNEDVQRAVCGALRNLVFEDNDNKLEVAELNGVPRLLQVLKQTRDLETKKQITGLLWNLSSNDKLKNLMITEAL
LTLTENIIIPFSGWPEGDYPKANGLLDFDIFYNVTGCLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPDDKAT
ENCVCILHNLSYQLEAELPEKYSQNIYIQNRNIQTDNNKSIGCFGSRSRKVKEQYQDVPMPEEKSNPKGVEWLWHSIVIR
MYLSLIAKSVRNYTQEASLGALQNLTAGSGPMPTSVAQTVVQKESGLQHTRKMLHVGDPSVKKTAISLLRNLSRNLSLQN
EIAMPPTKQVKLLPSFCILCGHTRNCIMPTRRLSLRRQILSTAGLPKPTTPLKTEENDKVFSAAKIPKRKHLFFYYPAQE
TSKACLVSILLYFRGPLNPENK*

Gene Symbol:PKP2
Accession:NM_001407157
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407161
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407162
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000326384 CLINVAR
dbSNP (RS) rs754465954 CLINVAR
MedGen C1836906 CLINVAR
NCBI Gene PKP2 CLINVAR
OMIM 602861 CLINVAR
  609040 CLINVAR