RGD:11643207 Rat Genome Database

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Variant: RGD:11643207 -  Homo sapiens

RGD ID: 11643207
RS ID: rs148755655
ClinVar ID: CV273839
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UGT1A  UGT1A1  UGT1A10  UGT1A3  UGT1A4  UGT1A5  UGT1A6  UGT1A7  UGT1A8  UGT1A9  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 234,669,473
GRCh38 2 233,760,827
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_733t1:c.540A>G
LRG_733:g.5555A>G
NG_002601.2:g.176084A>G
NG_033238.1:g.5555A>G
More... 		02/05/2019 intron variant|synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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


Variant Details
Variant Transcripts
Gene Symbol:UGT1A1
Accession:NM_000463
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYP
VPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDSAMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIV
AQYLSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQR
EVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQEFEAYINASGEHGIVVFSLGSMVSEIPEKKAM
AIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDN
AKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHD
LTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH*

Gene Symbol:UGT1A5
Accession:NM_019078
Location:INTRON

Gene Symbol:UGT1A6
Accession:NM_205862
Location:INTRON

Gene Symbol:UGT1A6
Accession:NM_001072
Location:INTRON

Gene Symbol:UGT1A9
Accession:NM_021027
Location:INTRON

Gene Symbol:UGT1A7
Accession:NM_019077
Location:INTRON

Gene Symbol:UGT1A10
Accession:NM_019075
Location:INTRON

Gene Symbol:UGT1A3
Accession:NM_019093
Location:INTRON

Gene Symbol:UGT1A8
Accession:NM_019076
Location:INTRON

Gene Symbol:UGT1A4
Accession:NM_007120
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23290513   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000389831 CLINVAR
  RCV000727204 CLINVAR
  RCV001139855 CLINVAR
  RCV001139856 CLINVAR
  RCV001139857 CLINVAR
dbSNP (RS) rs148755655 CLINVAR
MedGen C0017551 CLINVAR
  C0270210 CLINVAR
  C3661900 CLINVAR
  C5551003 CLINVAR
  CN169374 CLINVAR
NCBI Gene UGT1A CLINVAR
  UGT1A1 CLINVAR
  UGT1A10 CLINVAR
  UGT1A3 CLINVAR
  UGT1A4 CLINVAR
  UGT1A5 CLINVAR
  UGT1A6 CLINVAR
  UGT1A7 CLINVAR
  UGT1A8 CLINVAR
  UGT1A9 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