RGD:28889582 Rat Genome Database

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Variant: RGD:28889582 -  Homo sapiens

RGD ID: 28889582
RS ID: rs1033209852
ClinVar ID: CV894390
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHR  LOC107963950  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 42,423,980
GRCh38 5 42,423,878
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.-89G>T
NG_050662.1:g.1257G>T
NG_011688.2:g.4955G>T
NC_000005.10:g.42423878G>T
More... 		01/13/2018 5 prime utr variant uncertain significance Growth hormone binding protein deficiency or dysfunction; Growth hormone receptor deficiency; Growth hormone receptor deficiency or dysfunction; Laron dwarfism; Laron Syndrome; Laron type pituitary dwarfism I
Disease Annotations     Click to see Annotation Detail View
Laron syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:GHR
Accession:NM_000163
Location:5UTRS;EXON

Gene Symbol:GHR
Accession:NM_001242400
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242399
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242401
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242460
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242404
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242462
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242405
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242403
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242406
Location:INTRON

Gene Symbol:GHR
Accession:NM_001242402
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001152143 CLINVAR
dbSNP (RS) rs1033209852 CLINVAR
MedGen C0271568 CLINVAR
NCBI Gene 107963950 CLINVAR
  GHR CLINVAR
OMIM 262500 CLINVAR
  600946 CLINVAR
SNOMED CT 38196001 CLINVAR