RGD:9684148 Rat Genome Database

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Variant: RGD:9684148 -  Homo sapiens

RGD ID: 9684148
RS ID: rs4148327
ClinVar ID: CV168048
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UGT1A  UGT1A1  UGT1A10  UGT1A3  UGT1A4  UGT1A5  UGT1A6  UGT1A7  UGT1A8  UGT1A9  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 234,675,826
GRCh38 2 233,767,180
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_733:g.11908T>C
NG_033238.1:g.11908T>C
NG_002601.2:g.182437T>C
NC_000002.12:g.233767180T>C
More... 		10/25/2022 intron variant benign|likely benign|uncertain significance 1-9 / 1 000 000 Gilbert Disease; Gilbert's syndrome; HYPERBILIRUBINEMIA I; HYPERBILIRUBINEMIA, ARIAS TYPE; HYPERBILIRUBINEMIA, GILBERT TYPE; none provided; Transient familial neonatal hyperbilirubinemia
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:UGT1A7
Accession:NM_019077
Location:INTRON

Gene Symbol:UGT1A3
Accession:NM_019093
Location:INTRON

Gene Symbol:UGT1A10
Accession:NM_019075
Location:INTRON

Gene Symbol:UGT1A1
Accession:NM_000463
Location:INTRON

Gene Symbol:UGT1A9
Accession:NM_021027
Location:INTRON

Gene Symbol:UGT1A6
Accession:NM_001072
Location:INTRON

Gene Symbol:UGT1A4
Accession:NM_007120
Location:INTRON

Gene Symbol:UGT1A5
Accession:NM_019078
Location:INTRON

Gene Symbol:UGT1A8
Accession:NM_019076
Location:INTRON

Gene Symbol:UGT1A6
Accession:NM_205862
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18414213   PMID:22514612   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000147907 CLINVAR
  RCV000263302 CLINVAR
  RCV000299727 CLINVAR
  RCV000354615 CLINVAR
  RCV002055942 CLINVAR
dbSNP (RS) rs4148327 CLINVAR
MedGen C0017551 CLINVAR
  C0270210 CLINVAR
  C0311468 CLINVAR
  C3661900 CLINVAR
  C5551003 CLINVAR
NCBI Gene UGT1A1 CLINVAR
  UGT1A10 CLINVAR
  UGT1A3 CLINVAR
  UGT1A4 CLINVAR
  UGT1A5 CLINVAR
  UGT1A6 CLINVAR
  UGT1A7 CLINVAR
  UGT1A8 CLINVAR
  UGT1A9 CLINVAR
  UGT1A@ CLINVAR
OMIM 143500 CLINVAR
  191740 CLINVAR
  237900 CLINVAR
  606428 CLINVAR
  606429 CLINVAR
  606430 CLINVAR
  606431 CLINVAR
  606432 CLINVAR
  606433 CLINVAR
  606434 CLINVAR
  606435 CLINVAR
SNOMED CT 27503000 CLINVAR
  47444008 CLINVAR