RGD:597664416 Rat Genome Database

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Variant: RGD:597664416 -  Homo sapiens

RGD ID: 597664416
ClinVar ID: CV3661053
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CR2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 207,641,958
GRCh38 1 207,468,613
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_348t1:c.532T>C
NM_001006658.3:c.532T>C
NM_001877.5:c.532T>C
LRG_348:g.19314T>C
More... 		11/26/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3661053Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


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Database
Acc Id
Source(s)
ClinVar RCV004979157 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CR2 CLINVAR
OMIM 120650 CLINVAR