RGD:14714659 Rat Genome Database

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Variant: RGD:14714659 -  Homo sapiens

RGD ID: 14714659
RS ID: rs143147791
ClinVar ID: CV664890
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: PRKG1  
Reference Nucleotide: -
Variant Nucleotide: ACAG
Position
Assembly Chr Position
GRCh37 10 54,032,524
GRCh38 10 52,272,764
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001098512.3:c.1358+285_1358+286insACAG
NM_006258.4:c.1403+285_1403+286insACAG
NC_000010.11:g.52272764_52272765insAGAC
NG_029982.1:g.1286616_1286617insACAG
More...
06/14/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PRKG1
Accession:NM_006258
Location:INTRON

Gene Symbol:PRKG1
Accession:NM_001374782
Location:INTRON

Gene Symbol:PRKG1
Accession:XM_017016413
Location:INTRON

Gene Symbol:PRKG1
Accession:NM_001374781
Location:INTRON

Gene Symbol:PRKG1
Accession:NM_001098512
Location:INTRON

Gene Symbol:PRKG1
Accession:XM_011539952
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000829111 CLINVAR
dbSNP (RS) rs143147791 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PRKG1 CLINVAR
OMIM 176894 CLINVAR