RGD:152072349 Rat Genome Database

Send us a Message



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

Variant: RGD:152072349 -  Homo sapiens

RGD ID: 152072349
RS ID: rs2128597226
ClinVar ID: CV1591822
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHRHR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 31,008,660
GRCh38 7 30,969,045
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000823.4:c.161-18T>C
NG_021416.1:g.10025T>C
NC_000007.14:g.30969045T>C
NC_000007.13:g.31008660T>C
08/29/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GHRHR
Accession:NM_000823
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002210146 CLINVAR
dbSNP (RS) rs2128597226 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GHRHR CLINVAR
OMIM 139191 CLINVAR