RGD:8565349 Rat Genome Database

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Variant: RGD:8565349 -  Homo sapiens

RGD ID: 8565349
RS ID: rs863223309
ClinVar ID: CV31018
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GH-LCR  GH1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 61,995,498
GRCh38 17 63,918,138
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_011676.1:g.5701A>T
NC_000017.11:g.63918138T>A
NC_000017.10:g.61995498T>A
NM_022560.4:c.171+208A>T
More... 		03/26/2013 intron variant pathogenic neonatal/infancy 1-5 / 10 000 Growth hormone deficiency, isolated autosomal dominant; Idiopathic Growth Hormone Deficiency Type II; IGHD II; Isolated growth hormone deficiency type 2; Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GH1
Accession:NM_000515
Location:INTRON

Gene Symbol:GH1
Accession:NM_022560
Location:INTRON

Gene Symbol:GH1
Accession:NM_022559
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12574219  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017349 CLINVAR
dbSNP (RS) rs863223309 CLINVAR
MedGen C0271567 CLINVAR
NCBI Gene 106128904 CLINVAR
  GH1 CLINVAR
OMIM 139250 CLINVAR
  173100 CLINVAR
OMIM Allele 139250.0018 CLINVAR
SNOMED CT 237687003 CLINVAR