RGD:597638031 Rat Genome Database

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Variant: RGD:597638031 -  Homo sapiens

RGD ID: 597638031
ClinVar ID: CV3643648
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BUB1B  BUB1B-PAK6  LOC107984763  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 40,512,892
GRCh38 15 40,220,691
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_016338.1:g.64683A>G
NG_033169.1:g.8264A>G
NC_000015.10:g.40220691A>G
NC_000015.9:g.40512892A>G
More... 		12/06/2024 intron variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3643648Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


.


Database
Acc Id
Source(s)
ClinVar RCV004970335 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene BUB1B CLINVAR
  BUB1B-PAK6 CLINVAR
OMIM 602860 CLINVAR