RGD:405208082 Rat Genome Database

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Variant: RGD:405208082 -  Homo sapiens

RGD ID: 405208082
ClinVar ID: CV3145563
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCKR  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 27,721,206
GRCh38 2 27,498,339
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.354+16T>A
NG_028024.1:g.6501T>A
NC_000002.12:g.27498339T>A
NC_000002.11:g.27721206T>A
 10/29/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GCKR
Accession:XM_011532763
Location:INTRON

Gene Symbol:GCKR
Accession:NM_001486
Location:INTRON

Gene Symbol:GCKR
Accession:XM_017003796
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 RCV003845293 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GCKR CLINVAR
OMIM 600842 CLINVAR