RGD:407529037 Rat Genome Database

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Variant: RGD:407529037 -  Homo sapiens

RGD ID: 407529037
ClinVar ID: CV3487714
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USP53  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 120,192,760
GRCh38 4 119,271,605
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001389665.1:c.1244G>A
NM_001389667.1:c.1244G>A
NM_001389662.1:c.1397G>A
NM_001389663.1:c.1397G>A
More... 		04/08/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3487714Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


.


Database
Acc Id
Source(s)
ClinVar RCV004680674 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene USP53 CLINVAR
OMIM 617431 CLINVAR