RGD:597642892 Rat Genome Database

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Variant: RGD:597642892 -  Homo sapiens

RGD ID: 597642892
ClinVar ID: CV3623238
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USP53  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 120,192,664
GRCh38 4 119,271,509
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001389665.1:c.1148T>A
NM_001389667.1:c.1148T>A
NM_001389662.1:c.1301T>A
NM_001389663.1:c.1301T>A
More... 		12/10/2024 missense variant likely benign|uncertain significance none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3623238Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532


.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV004972004 CLINVAR
  RCV005109993 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene USP53 CLINVAR
OMIM 617431 CLINVAR