RGD:15196265 Rat Genome Database

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Variant: RGD:15196265 -  Homo sapiens

RGD ID: 15196265
RS ID: rs1595514579
ClinVar ID: CV760157
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BUB1B  LOC107984763  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 40,468,881
GRCh38 15 40,176,680
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.581+7T>G
NG_016338.1:g.20672T>G
NC_000015.10:g.40176680T>G
NC_000015.9:g.40468881T>G
More... 		05/12/2018 intron variant likely benign 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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002540829 CLINVAR
  RCV003968404 CLINVAR
dbSNP (RS) rs1595514579 CLINVAR
MedGen C1850343 CLINVAR
NCBI Gene BUB1B CLINVAR
OMIM 257300 CLINVAR
  602860 CLINVAR