RGD:11587486 Rat Genome Database

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Variant: RGD:11587486 -  Homo sapiens

RGD ID: 11587486
RS ID: rs477251
ClinVar ID: CV293388
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHSR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 172,162,837
GRCh38 3 172,445,047
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_198407.2:c.*114A>G
NG_021159.1:g.8410A>G
NC_000003.12:g.172445047T>C
NC_000003.11:g.172162837T>C
 11/12/2018 3 prime utr variant benign <1 / 1 000 000 none provided; Short stature due to GHSR deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GHSR
Accession:NM_198407
Location:3UTRS;EXON

Gene Symbol:GHSR
Accession:NM_004122
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000295574 CLINVAR
  RCV001653663 CLINVAR
dbSNP (RS) rs477251 CLINVAR
MedGen C3661900 CLINVAR
  C4707848 CLINVAR
NCBI Gene GHSR CLINVAR
OMIM 601898 CLINVAR
  615925 CLINVAR
SNOMED CT 766817004 CLINVAR