RGD:597627727 Rat Genome Database

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Variant: RGD:597627727 -  Homo sapiens

RGD ID: 597627727
ClinVar ID: CV3603540
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 45,423,058
GRCh38 18 47,896,687
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001003652.4:c.70G>C
NM_001135937.3:c.70G>C
NM_005901.6:c.70G>C
NG_029946.2:g.39185G>C
More... 		11/02/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3603540Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


.


Database
Acc Id
Source(s)
ClinVar RCV004966590 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SMAD2 CLINVAR
OMIM 601366 CLINVAR