RGD:151833178 Rat Genome Database

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Variant: RGD:151833178 -  Homo sapiens

RGD ID: 151833178
RS ID: rs1363805902
ClinVar ID: CV1348183
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BUB1B  LOC107984763  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 40,505,690
GRCh38 15 40,213,489
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001211.6:c.2678+15T>G
LRG_489:g.57481T>G
NG_033169.1:g.1062T>G
NG_016338.1:g.57481T>G
More... 		08/27/2021 intron variant uncertain significance Warburton-Anyane-Yeboa syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BUB1B
Accession:NM_001211
Location:INTRON

Gene Symbol:LOC107984763
Accession:XR_001751506
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001880504 CLINVAR
dbSNP (RS) rs1363805902 CLINVAR
MedGen C1850343 CLINVAR
NCBI Gene BUB1B CLINVAR
OMIM 257300 CLINVAR
  602860 CLINVAR