RGD:11623717 Rat Genome Database

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Variant: RGD:11623717 -  Homo sapiens

RGD ID: 11623717
RS ID: rs565316919
ClinVar ID: CV333428
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGF1R  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 99,504,857
GRCh38 15 98,961,628
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000875.5:c.*4186A>G
NM_001291858.2:c.*4186A>G
NG_009492.1:g.317097A>G
NC_000015.10:g.98961628A>G
More...
06/14/2016 3 prime utr variant uncertain significance IGF-1 resistance; IGF-I RESISTANCE; Insulin-like growth factor 1 resistance to; Somatomedin end-organ insensitivity to; Somatomedin-c resistance to
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IGF1R
Accession:NM_000875
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:NM_001291858
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:XM_011521516
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:XM_011521517
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:XM_017022137
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:XM_047432443
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:XM_047432444
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:XM_047432445
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:XM_047432442
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000376185 CLINVAR
dbSNP (RS) rs565316919 CLINVAR
MedGen C1849157 CLINVAR
NCBI Gene IGF1R CLINVAR
OMIM 147370 CLINVAR
  270450 CLINVAR