RGD:597642537 Rat Genome Database

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Variant: RGD:597642537 -  Homo sapiens

RGD ID: 597642537
ClinVar ID: CV3623236
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USP53  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 120,188,503
GRCh38 4 119,267,348
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001371395.1:c.1001C>T
NM_001371396.1:c.1001C>T
NM_001371397.1:c.1001C>T
NM_001371398.1:c.1001C>T
More... 		12/06/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3623236Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


.


Database
Acc Id
Source(s)
ClinVar RCV004972002 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene USP53 CLINVAR
OMIM 617431 CLINVAR