RGD:155268290 Rat Genome Database

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Variant: RGD:155268290 -  Homo sapiens

RGD ID: 155268290
ClinVar ID: CV1701713
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: USP53  
Reference Nucleotide: -
Variant Nucleotide: AG
Position
Assembly Chr Position
GRCh37 4 120,160,992
GRCh38 4 119,239,837
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_019050.3:c.78_79dup
NM_001389665.1:c.-204-5500_-204-5499dup
NM_001371396.1:c.78_79dup
NM_001389661.1:c.78_79dup
More... 		09/01/2022 frameshift variant likely pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1701713HumanProgressive Familial Intrahepatic Cholestasis 7  IAGP 8554872ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing lossClinVarPMID:25741868


.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV002283943 CLINVAR
MedGen C5562043 CLINVAR
NCBI Gene USP53 CLINVAR
OMIM 617431 CLINVAR
  619658 CLINVAR