RGD:11609183 Rat Genome Database

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Variant: RGD:11609183 -  Homo sapiens

RGD ID: 11609183
RS ID: rs147605571
ClinVar ID: CV319128
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ROBO3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 124,751,127
GRCh38 11 124,881,231
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_016214.1:g.20823C>T
NC_000011.10:g.124881231C>T
NC_000011.9:g.124751127C>T
NM_001370364.1:c.1102-8C>T
More... 		01/12/2018 intron variant benign|likely benign adolescent
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ROBO3
Accession:NM_001370356
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370366
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370358
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370359
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370361
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370357
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370364
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_022370
Location:INTRON

Gene Symbol:ROBO3
Accession:NR_163409
Location:INTRON;NON-CODING

Gene Symbol:ROBO3
Accession:NR_163414
Location:INTRON;NON-CODING

Gene Symbol:ROBO3
Accession:NR_163411
Location:INTRON;NON-CODING

Gene Symbol:ROBO3
Accession:NR_163415
Location:INTRON;NON-CODING

Gene Symbol:ROBO3
Accession:NR_163413
Location:INTRON;NON-CODING

Gene Symbol:ROBO3
Accession:NR_163412
Location:INTRON;NON-CODING

Gene Symbol:ROBO3
Accession:NR_163410
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000365194 CLINVAR
dbSNP (RS) rs147605571 CLINVAR
MedGen C4551964 CLINVAR
NCBI Gene ROBO3 CLINVAR
OMIM 607313 CLINVAR
  608630 CLINVAR