RGD:28911379 Rat Genome Database

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Variant: RGD:28911379 -  Homo sapiens

RGD ID: 28911379
RS ID: rs1873506951
ClinVar ID: CV869107
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGF1  LINC02456  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 102,793,317
GRCh38 12 102,399,539
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000618.5:c.*2968C>A
NM_001111284.2:c.*2968C>A
NM_001111283.3:c.*3002C>A
NG_011713.1:g.86062C>A
More... 		01/13/2018 3 prime utr variant uncertain significance 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_000618
Location:3UTRS;EXON

Gene Symbol:IGF1
Accession:NM_001111284
Location:3UTRS;EXON

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

Gene Symbol:IGF1
Accession:XM_017019263
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:NM_001111285
Location:INTRON

Gene Symbol:IGF1
Accession:XM_017019259
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:IGF1
Accession:NM_001414005
Location:INTRON

Gene Symbol:IGF1
Accession:NM_001414006
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001110448 CLINVAR
dbSNP (RS) rs1873506951 CLINVAR
MedGen C1837475 CLINVAR
NCBI Gene IGF1 CLINVAR
  LINC02456 CLINVAR
OMIM 147440 CLINVAR
  608747 CLINVAR