RGD:405070070 Rat Genome Database

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Variant: RGD:405070070 -  Homo sapiens

RGD ID: 405070070
ClinVar ID: CV3031053
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCKR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 27,729,763
GRCh38 2 27,506,896
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001486.4:c.1066+11A>G
NG_028024.1:g.15058A>G
NC_000002.12:g.27506896A>G
NC_000002.11:g.27729763A>G
 03/16/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GCKR
Accession:XM_017003796
Location:INTRON

Gene Symbol:GCKR
Accession:XM_011532763
Location:INTRON

Gene Symbol:GCKR
Accession:NM_001486
Location:INTRON

Gene Symbol:GCKR
Accession:XM_017003797
Location:INTRON

Gene Symbol:GCKR
Accession:XR_001738699
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003698213 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GCKR CLINVAR
OMIM 600842 CLINVAR