RGD:407452279 Rat Genome Database

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Variant: RGD:407452279 -  Homo sapiens

RGD ID: 407452279
ClinVar ID: CV3477583
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 45,372,171
GRCh38 18 47,845,800
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_029946.1:g.90345G>T
NC_000018.10:g.47845800C>A
NM_001135937.3:c.908G>T
NM_001003652.4:c.998G>T
More... 		05/07/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3477583Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


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Database
Acc Id
Source(s)
ClinVar RCV004683966 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SMAD2 CLINVAR
OMIM 601366 CLINVAR