rs753028434 Rat Genome Database

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Variant: rs753028434 -  Homo sapiens

RGD ID: 26921334
RS ID: rs753028434
ClinVar ID: CV851269
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CR2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 207,640,263
GRCh38 1 207,466,918
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_348t1:c.445+6T>C
NM_001006658.3:c.445+6T>C
NM_001877.5:c.445+6T>C
LRG_348:g.17619T>C
More... 		11/18/2019 intron variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV851269Humancommon variable immunodeficiency 7  IAGP 8554872ClinVar Annotator: match by term: Immunodeficiency, common variable, 7ClinVarPMID:17576681|PMID:28492532|PMID:9536098
Gene Symbol:CR2
Accession:NM_001006658
Location:INTRON

Gene Symbol:CR2
Accession:NM_001877
Location:INTRON

.
PMID:9536098   PMID:17576681   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001060895 CLINVAR
dbSNP (RS) rs753028434 CLINVAR
MedGen C3542922 CLINVAR
NCBI Gene CR2 CLINVAR
OMIM 120650 CLINVAR
  614699 CLINVAR