RGD:156025441 Rat Genome Database

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Variant: RGD:156025441 -  Homo sapiens

RGD ID: 156025441
ClinVar ID: CV2112440
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: USP53  
Reference Nucleotide: A
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 4 120,161,023
GRCh38 4 119,239,868
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001389665.1:c.-204-5470del
NM_001389666.1:c.-204-5470del
NM_001389667.1:c.-204-5470del
NM_001389664.1:c.-205+4456del
More... 		05/27/2022 frameshift variant pathogenic none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

.
PMID:28492532   PMID:32124521   PMID:32759993  



Database
Acc Id
Source(s)
ClinVar RCV002909814 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene USP53 CLINVAR
OMIM 617431 CLINVAR