RGD:405085543 Rat Genome Database

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Variant: RGD:405085543 -  Homo sapiens

RGD ID: 405085543
ClinVar ID: CV3137664
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CR2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 207,647,130
GRCh38 1 207,473,785
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001877.5:c.1979-16A>G
NM_001006658.3:c.2156-16A>G
LRG_348:g.24486A>G
NG_013006.1:g.24486A>G
More... 		07/16/2023 intron variant likely benign
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3137664Humancommon variable immunodeficiency 7  IAGP 8554872ClinVar Annotator: match by term: Immunodeficiency, common variable, 7ClinVarPMID:28492532
Gene Symbol:CR2
Accession:NM_001006658
Location:INTRON

Gene Symbol:CR2
Accession:NM_001877
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003834373 CLINVAR
MedGen C3542922 CLINVAR
NCBI Gene CR2 CLINVAR
OMIM 120650 CLINVAR
  614699 CLINVAR