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Results for "DPYD"

Variant Events: 36

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
DPYD     Li2017:16185chr1:
98157331-98157331
CTexonicUnknownnonsynonymous SNVNM_000110c.G704Ap.R235Q35.08.245E-6Li2017 T
DPYD     iHART1866chr1:
97658667-97658668
CTCexonicPaternalframeshift deletionNM_000110c.2579delAp.Q860fs-3.3E-5Ruzzo2019 G
DPYD     iHART1862chr1:
97658667-97658668
CTCexonicPaternalframeshift deletionNM_000110c.2579delAp.Q860fs-3.3E-5Ruzzo2019 G
DPYD     AU4056302chr1:
98399144-98399144
GCintergenicDe novo--Yuen2017 G
DPYD     1-0494-003Achr1:
98054467-98054471
CTGTTCintronicDe novo--Yuen2017 G
DPYD     AU4429301chr1:
98170018-98170018
AGintronicDe novo--Yuen2017 G
DPYD     1-0400-003chr1:
98214602-98214602
CTintronicDe novo--Yuen2016 G
Yuen2017 G
DPYD     1-0051-004chr1:
97858823-97858823
TCintronicDe novo--Yuen2017 G
DPYD     AU4235301chr1:
98391943-98391943
AGintergenicDe novo--Yuen2017 G
DPYD     2-0202-004chr1:
98243629-98243629
GAintronicDe novo--Yuen2017 G
DPYD     5-0042-003chr1:
98063322-98063322
CTintronicDe novo--Yuen2017 G
DPYD     1-0007-003chr1:
98316204-98316204
TCintronicDe novo--Yuen2017 G
DPYD     5-0095-003chr1:
98188356-98188356
ATintronicDe novo--Yuen2017 G
DPYD     74-0075chr1:
97960335-97960335
TCintronicUnknown--Michaelson2012 G
DPYD     13023.p1chr1:
97912976-97912976
CGintronicDe novo--Turner2016 G
DPYD     1-0330-003chr1:
98327746-98327746
GAintronicDe novo--Yuen2017 G
DPYD     1-0354-006chr1:
97856637-97856639
CCTCintronicDe novo--Yuen2017 G
DPYD     AU2022302chr1:
97548406-97548406
TGintronicDe novo--Yuen2017 G
DPYD     11122.p1chr1:
98058985-98058985
CGintronicDe novo-4.138E-5Satterstrom2020 E
DPYD     AU0452304chr1:
97799966-97799966
CTintronicDe novo--Yuen2017 G
DPYD     Li2017:18364chr1:
97770835-97770835
GAexonicUnknownnonsynonymous SNVNM_000110c.C2279Tp.T760I19.888.0E-4Li2017 T
DPYD     1-0652-004chr1:
98171743-98171746
TCTATintronicDe novo--Yuen2017 G
DPYD     SP0086593chr1:
97548117-97548117
CTintronicDe novo--Fu2022 E
DPYD     Li2017:23792chr1:
97544645-97544645
ATexonicUnknownnonsynonymous SNVNM_000110c.T2965Ap.C989S25.4-Li2017 T
DPYD     1-0708-003chr1:
98033925-98033926
ACAintronicDe novo--Yuen2017 G
DPYD     SP0073722chr1:
98348879-98348879
TGexonicDe novononsynonymous SNVNM_000110
NM_001160301
c.A91C
c.A91C
p.T31P
p.T31P
23.2-Fu2022 E
DPYD     1-0138-003chr1:
98060074-98060074
TCintronicDe novo--Yuen2017 G
DPYD     AU070703chr1:
98377188-98377188
TCintronicDe novo--Yuen2017 G
DPYD     1-0252-003chr1:
98105727-98105727
TCintronicDe novo--Yuen2017 G
DPYD     1-0479-006chr1:
97800433-97800433
CTintronicDe novo--Yuen2017 G
DPYD     Li2017:27882chr1:
97544630-97544630
TCexonicUnknownnonsynonymous SNVNM_000110c.A2980Gp.S994G22.4-Li2017 T
DPYD     1-0935-003chr1:
98004479-98004479
TCintronicDe novo--Yuen2017 G
DPYD     AU2139303chr1:
98112829-98112832
TAAATAAintronicDe novo--Yuen2017 G
DPYD     7-0023-003chr1:
98452394-98452394
AGintergenicDe novo--Yuen2017 G
DPYD     1-0354-003chr1:
97547582-97547582
GCintronicDe novo--Yuen2017 G
DPYD     AU4024303chr1:
97547583-97547583
TCintronicDe novo--Yuen2017 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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