rs6175 Rat Genome Database

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Variant: rs6175 -  Homo sapiens

RGD ID: 11618859
RS ID: rs6175
ClinVar ID: CV329358
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GH-LCR  GH1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 61,996,196
GRCh38 17 63,918,836
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011676.1:g.5003G>C
NC_000017.11:g.63918836C>G
NC_000017.10:g.61996196C>G
NM_000515.3:c.-60G>C
More... 		06/20/2021 5 prime utr variant benign|likely benign Growth hormone deficiency; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GH1
Accession:NM_022560
Location:5UTRS;EXON

Gene Symbol:GH1
Accession:NM_000515
Location:5UTRS;EXON

Gene Symbol:GH1
Accession:NM_022559
Location:5UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000318527 CLINVAR
  RCV001683307 CLINVAR
dbSNP (RS) rs6175 CLINVAR
MedGen C3661900 CLINVAR
  C5539399 CLINVAR
NCBI Gene 106128904 CLINVAR
  GH1 CLINVAR
OMIM 139250 CLINVAR