RGD:150469275 Rat Genome Database

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Variant: RGD:150469275 -  Homo sapiens

RGD ID: 150469275
RS ID: rs6873340
ClinVar ID: CV1268070
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 42,711,100
GRCh38 5 42,710,998
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000163.5:c.619-209G>A
NM_001242400.2:c.619-209G>A
NM_001242401.4:c.619-209G>A
NM_001242402.2:c.619-209G>A
More... 		11/12/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GHR
Accession:NM_001242406
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242399
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242404
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242403
Location:INTRON

Gene Symbol:GHR
Accession:NM_000163
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242462
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242460
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242400
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242401
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242405
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242402
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001694933 CLINVAR
dbSNP (RS) rs6873340 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GHR CLINVAR
OMIM 600946 CLINVAR