RGD:150427542 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:150427542 -  Homo sapiens

RGD ID: 150427542
RS ID: rs73314176
ClinVar ID: CV1187247
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 44,198,050
GRCh38 7 44,158,451
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1074t1:c.46-4988G>C
LRG_1074t2:c.48+622G>C
NM_033508.3:c.-82-255G>C
NM_000162.5:c.46-4988G>C
More...
06/19/2019 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:NM_033508
Location:5UTRS;INTRON

Gene Symbol:GCK
Accession:NM_001354802
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354800
Location:INTRON

Gene Symbol:GCK
Accession:XM_024446707
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354801
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354803
Location:INTRON

Gene Symbol:GCK
Accession:NM_000162
Location:INTRON

Gene Symbol:GCK
Accession:NM_033507
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001561062 CLINVAR
dbSNP (RS) rs73314176 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 138079 CLINVAR