Variant Results

or

Results for "WDR1"

Variant Events: 39

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

WDR1

2-1246-003

chr4:
10326377-10326377

G

A

intergenic

De novo

-

Yuen2017 G

WDR1

7-0100-004

chr4:
10177367-10177367

T

G

intergenic

De novo

-

Yuen2017 G

WDR1

200675779_1082034642

chr4:
10117822-10117822

C

T

exonic

De novo

nonsynonymous SNV

NM_005112
NM_017491

c.G53A
c.G53A

p.G18D
p.G18D

28.3

-

Fu2022 E

WDR1

2-1283-004

chr4:
10345569-10345569

A

C

intergenic

De novo

-

Yuen2017 G

WDR1

3268_16mr

chr4:
10084809-10084809

T

G

intronic

De novo

-

Fu2022 E
Satterstrom2020 E

WDR1

1-0625-003

chr4:
10383431-10383431

C

A

intergenic

De novo

-

Yuen2017 G

WDR1

1-0271-004

chr4:
10360637-10360637

G

A

intergenic

De novo

-

Yuen2017 G

WDR1

SP0033566

chr4:
10105578-10105578

G

A

exonic

De novo

synonymous SNV

NM_017491

c.C171T

p.H57H

-

1.824E-5

Feliciano2019 E
Fu2022 E

WDR1

AU3371305

chr4:
10322274-10322274

C

T

intergenic

De novo

-

Yuen2017 G

WDR1

AU3839302

chr4:
10203035-10203035

C

T

intergenic

De novo

-

Yuen2017 G

WDR1

1-0481-003

chr4:
10205229-10205229

C

T

intergenic

De novo

-

Yuen2017 G

WDR1

2-1207-003

chr4:
10138351-10138351

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

WDR1

5-0030-003

chr4:
10432468-10432468

C

T

intergenic

De novo

-

Yuen2017 G

WDR1

2-1389-003

chr4:
10163332-10163332

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

WDR1

AU3846302

chr4:
10344953-10344953

G

C

intergenic

De novo

-

Yuen2017 G

WDR1

2-1327-004

chr4:
10385831-10385831

T

G

intergenic

De novo

-

Yuen2017 G

WDR1

2-1315-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

WDR1

2-0210-004

chr4:
10208984-10208984

G

A

intergenic

De novo

-

Yuen2017 G

WDR1

200675779@1082034642

chr4:
10117822-10117822

C

T

exonic

De novo

nonsynonymous SNV

NM_005112
NM_017491

c.G53A
c.G53A

p.G18D
p.G18D

28.3

-

Satterstrom2020 E

WDR1

AU3913301

chr4:
10357402-10357402

G

C

intergenic

De novo

-

Yuen2017 G

WDR1

1-0918-003

chr4:
10254148-10254152

CTTTT

CTT

intergenic

De novo

-

Yuen2017 G

WDR1

2-1189-003

chr4:
10106147-10106147

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

WDR1

2-1205-003

chr4:
10128753-10128753

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

WDR1

3-0661-000

chr4:
10256809-10256809

G

C

intergenic

De novo

-

Yuen2017 G

WDR1

2-1244-003

chr4:
10271007-10271007

G

A

intergenic

De novo

-

Yuen2017 G

WDR1

2-1283-003

chr4:
10345569-10345569

A

C

intergenic

De novo

-

Yuen2017 G

WDR1

AU0786305

chr4:
10166650-10166650

G

A

intergenic

De novo

-

Yuen2017 G

WDR1

3-0661-000

chr4:
10256234-10256234

C

A

intergenic

De novo

-

Yuen2017 G

WDR1

1-0080-003

chr4:
10329393-10329393

T

C

intergenic

De novo

-

Yuen2017 G

WDR1

2-1355-003

chr4:
10419325-10419325

G

T

intergenic

De novo

-

Yuen2017 G

WDR1

2-0197-004

chr4:
10309867-10309867

A

T

intergenic

De novo

-

Yuen2017 G

WDR1

2-0197-004

chr4:
10304084-10304084

C

G

intergenic

De novo

-

Yuen2017 G

WDR1

2-0144-004

chr4:
10088046-10088048

CTA

C

intronic

De novo

-

Yuen2017 G

WDR1

Chen2017:42

chr4:
10117822-10117822

C

T

exonic

De novo

nonsynonymous SNV

NM_005112
NM_017491

c.G53A
c.G53A

p.G18D
p.G18D

28.3

-

Chen2017 E

WDR1

EGAN00001101028

chr4:
10089612-10089612

G

C

intronic

De novo

-

Satterstrom2020 E

WDR1

AU028305

chr4:
10129786-10129786

G

A

intergenic

De novo

-

Yuen2017 G

WDR1

AU017703

chr4:
10118988-10118988

T

G

upstream

De novo

-

Yuen2017 G

WDR1

2-1277-003

chr4:
10133375-10133375

G

A

intergenic

De novo

-

Yuen2017 G

WDR1

AU3712301

chr4:
10388615-10388615

T

C

intergenic

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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