RGD:11666952 Rat Genome Database

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Variant: RGD:11666952 -  Homo sapiens

RGD ID: 11666952
RS ID: rs6171
ClinVar ID: CV353449
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GH-LCR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 61,996,204
GRCh38 17 63,918,844
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.4995A>G
NC_000017.11:g.63918844T>C
NC_000017.10:g.61996204T>C
NG_042788.1:g.1752T>C
 11/12/2018 5 prime utr variant benign|likely benign Isolated growth hormone deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:12655556  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000399451 CLINVAR
  RCV001595004 CLINVAR
dbSNP (RS) rs6171 CLINVAR
MedGen C3661900 CLINVAR
  C5679572 CLINVAR
NCBI Gene 106128904 CLINVAR
  GH1 CLINVAR
OMIM 139250 CLINVAR