Variant Results

or

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

Li2017:16185

chr1:
98157331-98157331

C

T

exonic

Unknown

nonsynonymous SNV

NM_000110

c.G704A

p.R235Q

35.0

8.245E-6

Li2017 T

DPYD

iHART1866

chr1:
97658667-97658668

CT

C

exonic

Paternal

frameshift deletion

NM_000110

c.2579delA

p.Q860fs

-

3.3E-5

Ruzzo2019 G

DPYD

iHART1862

chr1:
97658667-97658668

CT

C

exonic

Paternal

frameshift deletion

NM_000110

c.2579delA

p.Q860fs

-

3.3E-5

Ruzzo2019 G

DPYD

AU4056302

chr1:
98399144-98399144

G

C

intergenic

De novo

-

Yuen2017 G

DPYD

1-0494-003A

chr1:
98054467-98054471

CTGTT

C

intronic

De novo

-

Yuen2017 G

DPYD

AU4429301

chr1:
98170018-98170018

A

G

intronic

De novo

-

Yuen2017 G

DPYD

1-0400-003

chr1:
98214602-98214602

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DPYD

1-0051-004

chr1:
97858823-97858823

T

C

intronic

De novo

-

Yuen2017 G

DPYD

AU4235301

chr1:
98391943-98391943

A

G

intergenic

De novo

-

Yuen2017 G

DPYD

2-0202-004

chr1:
98243629-98243629

G

A

intronic

De novo

-

Yuen2017 G

DPYD

5-0042-003

chr1:
98063322-98063322

C

T

intronic

De novo

-

Yuen2017 G

DPYD

1-0007-003

chr1:
98316204-98316204

T

C

intronic

De novo

-

Yuen2017 G

DPYD

5-0095-003

chr1:
98188356-98188356

A

T

intronic

De novo

-

Yuen2017 G

DPYD

74-0075

chr1:
97960335-97960335

T

C

intronic

Unknown

-

Michaelson2012 G

DPYD

13023.p1

chr1:
97912976-97912976

C

G

intronic

De novo

-

Turner2016 G

DPYD

1-0330-003

chr1:
98327746-98327746

G

A

intronic

De novo

-

Yuen2017 G

DPYD

1-0354-006

chr1:
97856637-97856639

CCT

C

intronic

De novo

-

Yuen2017 G

DPYD

AU2022302

chr1:
97548406-97548406

T

G

intronic

De novo

-

Yuen2017 G

DPYD

11122.p1

chr1:
98058985-98058985

C

G

intronic

De novo

-

4.138E-5

Satterstrom2020 E

DPYD

AU0452304

chr1:
97799966-97799966

C

T

intronic

De novo

-

Yuen2017 G

DPYD

Li2017:18364

chr1:
97770835-97770835

G

A

exonic

Unknown

nonsynonymous SNV

NM_000110

c.C2279T

p.T760I

19.88

8.0E-4

Li2017 T

DPYD

1-0652-004

chr1:
98171743-98171746

TCTA

T

intronic

De novo

-

Yuen2017 G

DPYD

SP0086593

chr1:
97548117-97548117

C

T

intronic

De novo

-

Fu2022 E

DPYD

Li2017:23792

chr1:
97544645-97544645

A

T

exonic

Unknown

nonsynonymous SNV

NM_000110

c.T2965A

p.C989S

25.4

-

Li2017 T

DPYD

1-0708-003

chr1:
98033925-98033926

AC

A

intronic

De novo

-

Yuen2017 G

DPYD

SP0073722

chr1:
98348879-98348879

T

G

exonic

De novo

nonsynonymous SNV

NM_000110
NM_001160301

c.A91C
c.A91C

p.T31P
p.T31P

23.2

-

Fu2022 E

DPYD

1-0138-003

chr1:
98060074-98060074

T

C

intronic

De novo

-

Yuen2017 G

DPYD

AU070703

chr1:
98377188-98377188

T

C

intronic

De novo

-

Yuen2017 G

DPYD

1-0252-003

chr1:
98105727-98105727

T

C

intronic

De novo

-

Yuen2017 G

DPYD

1-0479-006

chr1:
97800433-97800433

C

T

intronic

De novo

-

Yuen2017 G

DPYD

Li2017:27882

chr1:
97544630-97544630

T

C

exonic

Unknown

nonsynonymous SNV

NM_000110

c.A2980G

p.S994G

22.4

-

Li2017 T

DPYD

1-0935-003

chr1:
98004479-98004479

T

C

intronic

De novo

-

Yuen2017 G

DPYD

AU2139303

chr1:
98112829-98112832

TAAA

TAA

intronic

De novo

-

Yuen2017 G

DPYD

7-0023-003

chr1:
98452394-98452394

A

G

intergenic

De novo

-

Yuen2017 G

DPYD

1-0354-003

chr1:
97547582-97547582

G

C

intronic

De novo

-

Yuen2017 G

DPYD

AU4024303

chr1:
97547583-97547583

T

C

intronic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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