rs1578491039 Rat Genome Database

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Variant: rs1578491039 -  Homo sapiens

RGD ID: 15040189
RS ID: rs1578491039
ClinVar ID: CV682417
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USP53  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 120,177,680
GRCh38 4 119,256,525
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001389665.1:c.221+2T>C
NM_001389662.1:c.221+2T>C
NM_001389659.1:c.569+2T>C
NM_001389664.1:c.221+2T>C
More... 		10/15/2019 splice donor variant pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV682417Humancholestasis  IAGP 8554872ClinVar Annotator: match by term: CholestasisClinVarPMID:25741868

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV682417HumanCholestasis  IAGP 8554872ClinVar Annotator: match by term: CholestasisClinVarPMID:25741868
Gene Symbol:USP53
Accession:NM_019050
Location:INTRON

Gene Symbol:USP53
Accession:XM_005263075
Location:INTRON

Gene Symbol:USP53
Accession:XM_005263077
Location:INTRON

Gene Symbol:USP53
Accession:XM_011532037
Location:INTRON

Gene Symbol:USP53
Accession:XM_017008313
Location:INTRON

Gene Symbol:USP53
Accession:XM_017008314
Location:INTRON

Gene Symbol:USP53
Accession:NM_001371395
Location:INTRON

Gene Symbol:USP53
Accession:NM_001371398
Location:INTRON

Gene Symbol:USP53
Accession:NM_001371399
Location:INTRON

Gene Symbol:USP53
Accession:NM_001371397
Location:INTRON

Gene Symbol:USP53
Accession:NM_001371396
Location:INTRON

Gene Symbol:USP53
Accession:NM_001389661
Location:INTRON

Gene Symbol:USP53
Accession:NM_001389663
Location:INTRON

Gene Symbol:USP53
Accession:NM_001389667
Location:INTRON

Gene Symbol:USP53
Accession:NM_001389658
Location:INTRON

Gene Symbol:USP53
Accession:NM_001389664
Location:INTRON

Gene Symbol:USP53
Accession:NM_001389660
Location:INTRON

Gene Symbol:USP53
Accession:NM_001389662
Location:INTRON

Gene Symbol:USP53
Accession:NM_001389666
Location:INTRON

Gene Symbol:USP53
Accession:NM_001389665
Location:INTRON

Gene Symbol:USP53
Accession:NM_001389659
Location:INTRON

Gene Symbol:USP53
Accession:XM_047415829
Location:INTRON

Gene Symbol:USP53
Accession:XM_047415828
Location:INTRON

Gene Symbol:USP53
Accession:XM_047415834
Location:INTRON

Gene Symbol:USP53
Accession:XM_047415837
Location:INTRON

Gene Symbol:USP53
Accession:XM_047415830
Location:INTRON

Gene Symbol:USP53
Accession:XM_047415832
Location:INTRON

Gene Symbol:USP53
Accession:XM_047415833
Location:INTRON

Gene Symbol:USP53
Accession:XM_047415836
Location:INTRON

Gene Symbol:USP53
Accession:XM_047415831
Location:INTRON

Gene Symbol:USP53
Accession:XM_047415835
Location:INTRON

Gene Symbol:USP53
Accession:XM_047415826
Location:INTRON

Gene Symbol:USP53
Accession:XM_047415827
Location:INTRON

.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV000856555 CLINVAR
dbSNP (RS) rs1578491039 CLINVAR
MedGen C0008370 CLINVAR
NCBI Gene USP53 CLINVAR
OMIM 617431 CLINVAR