RGD:156199564 Rat Genome Database

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Variant: RGD:156199564 -  Homo sapiens

RGD ID: 156199564
ClinVar ID: CV2187130
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MVP-DT  PRRT2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 29,824,503
GRCh38 16 29,813,182
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.128A>G
NM_001256443.2:c.128A>G
NM_145239.3:c.128A>G
NG_032039.2:g.5991A>G
More... 		10/13/2022 missense variant uncertain significance Dystonia 10; Familial paroxysmal dystonia; Familial Paroxysmal Kinesigenic Dyskinesia; Paroxysmal kinesigenic choreoathetosis; Paroxysmal kinesigenic dyskinesia; PxMD-PRRT2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRRT2
Accession:NM_145239
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPGQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE
TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA
LVGGVLIIIASCVINLGVYK*

Gene Symbol:PRRT2
Accession:NM_001256443
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPGQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE
TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMVSPMGP*

Gene Symbol:PRRT2
Accession:XM_017022889
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPGQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE
TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA
LVGGVLIIIASCVINLGDAA*

Gene Symbol:PRRT2
Accession:XM_017022888
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPGQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE
TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA
LVGGVLIIIASCVINLGVYK*

Gene Symbol:PRRT2
Accession:XM_017022887
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPGQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE
TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA
LVGGVLIIIASCVINLGGCCMSLKHQ*

Gene Symbol:PRRT2
Accession:NM_001256442
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPGQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE
TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA
LVGGVLIIIASCVINLGGEWGLGTGRGGMEGLARAALLTPAPALSCLSSLPLLCLSLSPPPPVCPSLSSPTVYK*

Gene Symbol:PRRT2
Accession:XM_011545715
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPGQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE
TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA
LVGGVLIIIASCVINLGGEWGLGTGRGGMEGLARAALLTPAPALSCLSSLPLLCLSLSPPPPVCPSLSSPTVYK*

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV003058113 CLINVAR
  RCV003448476 CLINVAR
MedGen C1868682 CLINVAR
  C4552000 CLINVAR
NCBI Gene MVP-DT CLINVAR
  PRRT2 CLINVAR
OMIM 128200 CLINVAR
  614386 CLINVAR