RGD:11549140 Rat Genome Database

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Variant: RGD:11549140 -  Homo sapiens

RGD ID: 11549140
RS ID: rs886039153
ClinVar ID: CV258644
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902425  PRKG1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 54,011,430
GRCh38 10 52,251,670
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029982.1:g.1265520G>A
NC_000010.11:g.52251670G>A
NC_000010.10:g.54011430G>A
NM_006258.3:c.1173+4G>A
More...
06/13/2019 intron variant likely benign|uncertain significance AllHighlyPenetrant; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRKG1
Accession:NM_001374781
Location:5UTRS;INTRON

Gene Symbol:PRKG1
Accession:NM_001098512
Location:INTRON

Gene Symbol:PRKG1
Accession:NM_006258
Location:INTRON

Gene Symbol:PRKG1
Accession:XM_011539952
Location:INTRON

Gene Symbol:PRKG1
Accession:XM_017016413
Location:INTRON

Gene Symbol:PRKG1
Accession:NM_001374782
Location:INTRON

Gene Symbol:LOC124902425
Accession:XR_007062145
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000609158 CLINVAR
  RCV001202766 CLINVAR
  RCV002311173 CLINVAR
dbSNP (RS) rs886039153 CLINVAR
MedGen C3809513 CLINVAR
  C4707243 CLINVAR
  CN169374 CLINVAR
NCBI Gene PRKG1 CLINVAR
OMIM 176894 CLINVAR
  615436 CLINVAR