RGD:11655111 Rat Genome Database

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Variant: RGD:11655111 -  Homo sapiens

RGD ID: 11655111
RS ID: rs886055204
ClinVar ID: CV285643
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127275346  PRKRA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 179,315,874
GRCh38 2 178,451,147
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009053.1:g.5085C>T
NC_000002.12:g.178451147G>A
NC_000002.11:g.179315874G>A
NM_003690.5:c.-117C>T
More...
06/14/2016 2kb upstream variant|5 prime utr variant uncertain significance DYT-PRKRA
Disease Annotations     Click to see Annotation Detail View
dystonia 16  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:PRKRA
Accession:NM_003690
Location:5UTRS;EXON

Gene Symbol:PRKRA
Accession:NM_001316362
Location:5UTRS;EXON

Gene Symbol:PRKRA
Accession:XM_047446138
Location:5UTRS;EXON

Gene Symbol:PRKRA
Accession:NM_001139517
Location:INTRON

Gene Symbol:PRKRA
Accession:NM_001139518
Location:INTRON

Gene Symbol:PRKRA
Accession:XM_011512063
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000323424 CLINVAR
dbSNP (RS) rs886055204 CLINVAR
MedGen C2677567 CLINVAR
NCBI Gene PRKRA CLINVAR
OMIM 603424 CLINVAR
  612067 CLINVAR