RGD:127243698 Rat Genome Database

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Variant: RGD:127243698 -  Homo sapiens

RGD ID: 127243698
RS ID: rs2037726277
ClinVar ID: CV1056216
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BUB1B  LOC107984763  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 40,504,698
GRCh38 15 40,212,497
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.2386-2A>G
LRG_489:g.56489A>G
NG_016338.1:g.56489A>G
NG_033169.1:g.70A>G
More... 		10/21/2020 splice acceptor variant likely pathogenic 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:15475955   PMID:16199547   PMID:21190457   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001377149 CLINVAR
dbSNP (RS) rs2037726277 CLINVAR
MedGen C1850343 CLINVAR
NCBI Gene BUB1B CLINVAR
OMIM 257300 CLINVAR
  602860 CLINVAR