RGD:14729181 Rat Genome Database

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Variant: RGD:14729181 -  Homo sapiens

RGD ID: 14729181
RS ID: rs1592737126
ClinVar ID: CV652241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 32,974,284
GRCh38 12 32,821,350
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_398t1:c.2145+6T>A
LRG_398:g.80497T>A
NG_009000.1:g.80497T>A
NC_000012.12:g.32821350A>T
More... 		02/12/2020 intron 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_001407161
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 673
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSGRGGQTVKSLRIQEQVQQTLARKGRSSVGNGNLHRT
SSVPEYVYNLHLVENDFVGGRSPVPKTYDMLKAGTTATYEGRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAH
YTHSDYQYSQRSQAGHTLHHQESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQHGSVSDTVFDSIPANPAL
LTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVPLQPVTQNRASRSSWHQSSFHSTRTLREAGPSVAVDSSGRRAHLT
VGQAAAGGSGNLLTERSTFTDSQLGNADMEMTLERAVSMLEADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILKL
LQLLKVQNEDVQRAVCGALRNLVFEDNDNKLEVAELNGVPRLLQVLKQTRDLETKKQITGLLWNLSSNDKLKNLMITEAL
LTLTENIIIPFSGWPEGDYPKANGLLDFDIFYNVTGCLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPDDKAT
ENCVCILHNLSYQLEAELPEKYSQNIYIQNRNIQTDNNKSIGCFGSRSRKVKEQYQDVPMPEEKSNPKGVEWLWHSIVIR
MYLSLIAKSVRNYTQEASLGALQNLTAGSGPVRIGPDFLLFKIMIL*

Gene Symbol:PKP2
Accession:NM_001407157
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 717
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSGRGGQTVKSLRIQEQVQQTLARKGRSSVGNGNLHRT
SSVPEYVYNLHLVENDFVGGRSPVPKTYDMLKAGTTATYEGRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAH
YTHSDYQYSQRSQAGHTLHHQESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQHGSVSDTVFDSIPANPAL
LTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVPLQPVTQNRASRSSWHQSSFHSTRTLREAGPSVAVDSSGRRAHLT
VGQAAAGGSGNLLTERSTFTDSQLGNADMEMTLERAVSMLEADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILKL
LQLLKVQNEDVQRAVCGALRNLVFEDNDNKLEVAELNGVPRLLQVLKQTRDLETKKQITDHTVNLRSRNGWPGAVAHACN
PSTLGGQGGRITRSGVRDQPDQHGLLWNLSSNDKLKNLMITEALLTLTENIIIPFSGWPEGDYPKANGLLDFDIFYNVTG
CLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPDDKATENCVCILHNLSYQLEAELPEKYSQNIYIQNRNIQTD
NNKSIGCFGSRSRKVKEQYQDVPMPEEKSNPKGVEWLWHSIVIRMYLSLIAKSVRNYTQEASLGALQNLTAGSGPVRIGP
DFLLFKIMIL*

Gene Symbol:PKP2
Accession:NM_001407162
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 564
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKAGTTATYEGRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAHYTHSDYQYSQRSQAGHTLHHQESRRAALL
VPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQHGSVSDTVFDSIPANPALLTYPRPGTSRSMGNLLEKENYLTAGLTVG
QVRPLVPLQPVTQNRASRSSWHQSSFHSTRTLREAGPSVAVDSSGRRAHLTVGQAAAGGSGNLLTERSTFTDSQLGNADM
EMTLERAVSMLEADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILKLLQLLKVQNEDVQRAVCGALRNLVFEDNDN
KLEVAELNGVPRLLQVLKQTRDLETKKQITGLLWNLSSNDKLKNLMITEALLTLTENIIIPFSGWPEGDYPKANGLLDFD
IFYNVTGCLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPDDKATENCVCILHNLSYQLEAELPEKYSQNIYIQ
NRNIQTDNNKSIGCFGSRSRKVKEQYQDVPMPEEKSNPKGVEWLWHSIVIRMYLSLIAKSVRNYTQEASLGALQNLTAGS
GPVRIGPDFLLFKIMIL*

Gene Symbol:PKP2
Accession:NM_001407158
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001005242
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407155
Location:INTRON

Gene Symbol:PKP2
Accession:NM_004572
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407156
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407160
Location:INTRON

Gene Symbol:PKP2
Accession:NM_001407159
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000816842 CLINVAR
dbSNP (RS) rs1592737126 CLINVAR
MedGen C1836906 CLINVAR
NCBI Gene PKP2 CLINVAR
OMIM 602861 CLINVAR
  609040 CLINVAR