RGD:11623315 Rat Genome Database

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Variant: RGD:11623315 -  Homo sapiens

RGD ID: 11623315
RS ID: rs537246408
ClinVar ID: CV330126
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGF1  LINC02456  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 102,789,663
GRCh38 12 102,395,885
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_011713.1:g.89716A>G
NC_000012.12:g.102395885T>C
NC_000012.11:g.102789663T>C
NM_000618.3:c.*6622A>G
More... 		06/14/2016 3 prime utr variant uncertain significance infancy <1 / 1 000 000 Growth retardation with sensorineural deafness and mental retardation; IGF1 deficiency; Insulin-like growth factor I deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IGF1
Accession:NM_001111284
Location:3UTRS;EXON

Gene Symbol:IGF1
Accession:NM_001414007
Location:3UTRS;EXON

Gene Symbol:IGF1
Accession:NM_000618
Location:3UTRS;EXON

Gene Symbol:IGF1
Accession:NM_001111283
Location:3UTRS;EXON

Gene Symbol:IGF1
Accession:XM_017019262
Location:3UTRS;EXON

Gene Symbol:IGF1
Accession:XM_017019263
Location:3UTRS;EXON

Gene Symbol:IGF1
Accession:NM_001414005
Location:INTRON

Gene Symbol:IGF1
Accession:XM_017019259
Location:INTRON

Gene Symbol:IGF1
Accession:NM_001111285
Location:INTRON

Gene Symbol:IGF1
Accession:NM_001414006
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LINC02456
Accession:XR_007063427
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000371468 CLINVAR
dbSNP (RS) rs537246408 CLINVAR
MedGen C1837475 CLINVAR
NCBI Gene IGF1 CLINVAR
  LINC02456 CLINVAR
OMIM 147440 CLINVAR
  608747 CLINVAR