RGD:38467604 Rat Genome Database

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Variant: RGD:38467604 -  Homo sapiens

RGD ID: 38467604
RS ID: rs1239450803
ClinVar ID: CV920892
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MVP-DT  PRRT2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 29,825,620
GRCh38 16 29,814,299
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.29814299G>A
NC_000016.9:g.29825620G>A
NG_032039.1:g.7212G>A
NM_001256442.2:c.880-34G>A
More... 		06/01/2020 3 prime utr variant pathogenic|uncertain significance CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2; Convulsions, infantile, with paroxysmal choreoathetosis, familial; Familial paroxysmal dystonia; Infantile convulsions and paroxysmal choreoathetosis, familial; none provided; Paroxysmal kinesigenic dyskinesia; PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS

Variant Details
Variant Transcripts
Gene Symbol:PRRT2
Accession:NM_001256443
Location:3UTRS;EXON

Gene Symbol:PRRT2
Accession:NM_145239
Location:INTRON

Gene Symbol:PRRT2
Accession:XM_017022887
Location:INTRON

Gene Symbol:PRRT2
Accession:XM_011545715
Location:INTRON

Gene Symbol:PRRT2
Accession:NM_001256442
Location:INTRON

Gene Symbol:PRRT2
Accession:XM_017022888
Location:INTRON

Gene Symbol:PRRT2
Accession:XM_017022889
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26935445   PMID:26936445   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001200407 CLINVAR
  RCV001309110 CLINVAR
  RCV002051919 CLINVAR
  RCV003333135 CLINVAR
dbSNP (RS) rs1239450803 CLINVAR
MedGen C1853995 CLINVAR
  C1865926 CLINVAR
  C1868682 CLINVAR
  C3661900 CLINVAR
NCBI Gene MVP-DT CLINVAR
  PRRT2 CLINVAR
OMIM 602066 CLINVAR
  605751 CLINVAR
  614386 CLINVAR