RGD:402483182 Rat Genome Database

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Variant: RGD:402483182 -  Homo sapiens

RGD ID: 402483182
ClinVar ID: CV2921553
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: USP53  
Reference Nucleotide: A
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 4 120,182,869
GRCh38 4 119,261,714
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001389662.1:c.475-2del
NM_001389663.1:c.475-2del
NM_001389664.1:c.475-2del
NM_001389665.1:c.475-2del
More... 		09/12/2023 intron variant likely pathogenic none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

.
PMID:16199547   PMID:28492532   PMID:32124521   PMID:32759993  



Database
Acc Id
Source(s)
ClinVar RCV003572134 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene USP53 CLINVAR
OMIM 617431 CLINVAR