RGD:126766081 Rat Genome Database

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Variant: RGD:126766081 -  Homo sapiens

RGD ID: 126766081
RS ID: rs1900113819
ClinVar ID: CV1032582
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MVP-DT  PRRT2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 29,825,184
GRCh38 16 29,813,863
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256442.2:c.809T>A
NM_001256443.2:c.809T>A
NM_145239.3:c.809T>A
NG_032039.1:g.6776T>A
More... 		10/26/2020 missense variant uncertain significance Familial paroxysmal dystonia; Paroxysmal kinesigenic dyskinesia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRRT2
Accession:NM_001256443
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE
TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYINLAILSCFCPMWPVNIVAFAYAVMVSPMGP*

Gene Symbol:PRRT2
Accession:NM_001256442
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE
TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYINLAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA
LVGGVLIIIASCVINLGGEWGLGTGRGGMEGLARAALLTPAPALSCLSSLPLLCLSLSPPPPVCPSLSSPTVYK*

Gene Symbol:PRRT2
Accession:XM_017022888
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE
TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYINLAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA
LVGGVLIIIASCVINLGVYK*

Gene Symbol:PRRT2
Accession:NM_145239
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE
TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYINLAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA
LVGGVLIIIASCVINLGVYK*

Gene Symbol:PRRT2
Accession:XM_017022887
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE
TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYINLAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA
LVGGVLIIIASCVINLGGCCMSLKHQ*

Gene Symbol:PRRT2
Accession:XM_017022889
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE
TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYINLAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA
LVGGVLIIIASCVINLGDAA*

Gene Symbol:PRRT2
Accession:XM_011545715
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE
TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYINLAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA
LVGGVLIIIASCVINLGGEWGLGTGRGGMEGLARAALLTPAPALSCLSSLPLLCLSLSPPPPVCPSLSSPTVYK*

Gene Symbol:MVP-DT
Accession:NR_186424
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532   PMID:32651081  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001342282 CLINVAR
dbSNP (RS) rs1900113819 CLINVAR
MedGen C1868682 CLINVAR
NCBI Gene MVP-DT CLINVAR
  PRRT2 CLINVAR
OMIM 614386 CLINVAR