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Results for "UGT1A1"

Variant Events: 4

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
UGT1A1     Lim2017:37087chr2:
234676519-234676519
CTexonicDe novostopgainNM_000463
NM_001072
NM_007120
NM_019075
NM_019076
NM_019077
NM_019078
NM_019093
NM_021027
NM_205862
c.C1021T
c.C1018T
c.C1024T
c.C1012T
c.C1012T
c.C1012T
c.C1024T
c.C1024T
c.C1012T
c.C217T
p.R341X
p.R340X
p.R342X
p.R338X
p.R338X
p.R338X
p.R342X
p.R342X
p.R338X
p.R73X
23.62.471E-5Lim2017 E
UGT1A1     80001104448chr2:
234676504-234676504
CTexonicDe novononsynonymous SNVNM_000463
NM_001072
NM_007120
NM_019075
NM_019076
NM_019077
NM_019078
NM_019093
NM_021027
NM_205862
c.C1006T
c.C1003T
c.C1009T
c.C997T
c.C997T
c.C997T
c.C1009T
c.C1009T
c.C997T
c.C202T
p.R336W
p.R335W
p.R337W
p.R333W
p.R333W
p.R333W
p.R337W
p.R337W
p.R333W
p.R68W
17.918.237E-6Satterstrom2020 E
UGT1A1     04HI3434Achr2:
234675744-234675744
TGexonicDe novononsynonymous SNVNM_000463
NM_001072
NM_007120
NM_019075
NM_019076
NM_019077
NM_019078
NM_019093
NM_021027
NM_205862
c.T929G
c.T926G
c.T932G
c.T920G
c.T920G
c.T920G
c.T932G
c.T932G
c.T920G
c.T125G
p.M310R
p.M309R
p.M311R
p.M307R
p.M307R
p.M307R
p.M311R
p.M311R
p.M307R
p.M42R
24.4-Satterstrom2020 E
UGT1A1     14644.p1chr2:
234676519-234676519
CTexonicDe novostopgainNM_000463
NM_001072
NM_007120
NM_019075
NM_019076
NM_019077
NM_019078
NM_019093
NM_021027
NM_205862
c.C1021T
c.C1018T
c.C1024T
c.C1012T
c.C1012T
c.C1012T
c.C1024T
c.C1024T
c.C1012T
c.C217T
p.R341X
p.R340X
p.R342X
p.R338X
p.R338X
p.R338X
p.R342X
p.R342X
p.R338X
p.R73X
23.62.471E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Krupp2017 E
Krupp2017 E
Krupp2017 E
Krupp2017 E
Krupp2017 E
Krupp2017 E
Krupp2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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