RGD:28896007 Rat Genome Database

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Variant: RGD:28896007 -  Homo sapiens

RGD ID: 28896007
RS ID: rs1567768628
ClinVar ID: CV877525
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 40,540,499
GRCh38 17 42,388,481
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Clinical Significance Trait Synonyms
LRG_112t1:c.-226C>T
LRG_112:g.5015C>T
NG_007370.1:g.5015C>T
NC_000017.11:g.42388481G>A
More... 		04/27/2017 uncertain significance AD hyperimmunoglobulin E syndrome; Autosomal Dominant Hyper IgE Syndrome; HIES autosomal dominant; Hyper Ig E syndrome, autosomal dominant; Hyper-IgE recurrent infection syndrome 1; HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS; Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant; Job syndrome; Job's Syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001122680 CLINVAR
dbSNP (RS) rs1567768628 CLINVAR
MedGen C4721531 CLINVAR
NCBI Gene STAT3 CLINVAR
OMIM 102582 CLINVAR
  147060 CLINVAR