RGD:28869204 Rat Genome Database

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Variant: RGD:28869204 -  Homo sapiens

RGD ID: 28869204
RS ID: rs1873197038
ClinVar ID: CV869088
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGF1  LINC02456  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 102,790,294
GRCh38 12 102,396,516
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001111284.2:c.*5991C>T
NC_000012.12:g.102396516G>A
NC_000012.11:g.102790294G>A
NM_000618.3:c.*5991C>T
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_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_000618
Location:3UTRS;EXON

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

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

Gene Symbol:IGF1
Accession:NM_001414005
Location:INTRON

Gene Symbol:IGF1
Accession:NM_001414006
Location:INTRON

Gene Symbol:IGF1
Accession:XM_017019259
Location:INTRON

Gene Symbol:IGF1
Accession:NM_001111285
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 RCV001113014 CLINVAR
dbSNP (RS) rs1873197038 CLINVAR
MedGen C1837475 CLINVAR
NCBI Gene IGF1 CLINVAR
  LINC02456 CLINVAR
OMIM 147440 CLINVAR
  608747 CLINVAR