RGD:13626626 Rat Genome Database

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Variant: RGD:13626626 -  Homo sapiens

RGD ID: 13626626
RS ID: rs1436490223
ClinVar ID: CV525488
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRKG1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 54,041,906
GRCh38 10 52,282,146
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.1295996T>C
NC_000010.11:g.52282146T>C
NC_000010.10:g.54041906T>C
NM_001098512.3:c.1501-7T>C
More... 		09/20/2017 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRKG1
Accession:NM_001098512
Location:INTRON

Gene Symbol:PRKG1
Accession:XM_011539952
Location:INTRON

Gene Symbol:PRKG1
Accession:NM_001374782
Location:INTRON

Gene Symbol:PRKG1
Accession:NM_006258
Location:INTRON

Gene Symbol:PRKG1
Accession:NM_001374781
Location:INTRON

Gene Symbol:PRKG1
Accession:XM_017016413
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000655082 CLINVAR
dbSNP (RS) rs1436490223 CLINVAR
MedGen C3809513 CLINVAR
NCBI Gene PRKG1 CLINVAR
OMIM 176894 CLINVAR
  615436 CLINVAR