RGD:11610621 Rat Genome Database

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Variant: RGD:11610621 -  Homo sapiens

RGD ID: 11610621
RS ID: rs558809166
ClinVar ID: CV323646
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGF1R  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 99,500,962
GRCh38 15 98,957,733
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009492.1:g.313202C>A
NC_000015.10:g.98957733C>A
NC_000015.9:g.99500962C>A
NM_000875.3:c.*291C>A
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_001291858
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:NM_000875
Location:3UTRS;EXON

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000384146 CLINVAR
dbSNP (RS) rs558809166 CLINVAR
MedGen C1849157 CLINVAR
NCBI Gene IGF1R CLINVAR
OMIM 147370 CLINVAR
  270450 CLINVAR