RGD:405011734 Rat Genome Database

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Variant: RGD:405011734 -  Homo sapiens

RGD ID: 405011734
ClinVar ID: CV3128057
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GH-LCR  GH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 61,995,300
GRCh38 17 63,917,940
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022560.4:c.172-16C>T
NM_022559.4:c.247-16C>T
NM_000515.5:c.292-16C>T
NG_011676.1:g.5899C>T
More... 		09/08/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GH1
Accession:NM_022560
Location:INTRON

Gene Symbol:GH1
Accession:NM_022559
Location:INTRON

Gene Symbol:GH1
Accession:NM_000515
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003828937 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GH-LCR CLINVAR
  GH1 CLINVAR
OMIM 139250 CLINVAR