Variant Results

or

or

Results for "WDR60"

Variant Events: 25

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

WDR60

1-0184-003

chr7:
158750270-158750270

A

G

intergenic

De novo

-

-

Yuen2017 G

WDR60

PN400100

chr7:
158695184-158695184

A

AT

exonic

Unknown

frameshift insertion

NM_018051

c.1256dupT

p.I419fs

-

-

Leblond2019 E

WDR60

AU4013302

chr7:
158708455-158708455

C

A

intronic

De novo

-

-

Yuen2017 G

WDR60

AU2292301

chr7:
158735565-158735565

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

WDR60

2-0309-005

chr7:
158775773-158775773

C

T

intergenic

De novo

-

-

Yuen2017 G

WDR60

AU2292302

chr7:
158735565-158735565

C

A

intronic

De novo

-

-

Yuen2017 G

WDR60

2-1737-003

chr7:
158651863-158651863

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

WDR60

MSSNG00172-003

chr7:
158725811-158725811

A

G

intronic

De novo

-

-

Trost2022 G

WDR60

SP0229322

chr7:
158738491-158738491

G

A

UTR3

De novo

-

-

Trost2022 G

WDR60

mAGRE1307

chr7:
158716425-158716425

G

A

splicing

Maternal

splicing

12.46

Cirnigliaro2023 G

WDR60

5-5171-003

chr7:
158708159-158708159

C

G

intronic

De novo

-

-

Trost2022 G

WDR60

mAGRE5364

chr7:
158662599-158662599

G

A

exonic

Paternal

stopgain

NM_018051

c.G69A

p.W23X

20.6

Cirnigliaro2023 G

WDR60

MSSNG00361-003

chr7:
158708353-158708353

C

G

intronic

De novo

-

-

Trost2022 G

WDR60

2-1741-003

chr7:
158695594-158695594

G

A

intronic

De novo

-

-

Yuen2017 G

WDR60

1-0079-003

chr7:
158682808-158682808

G

GGATTACA

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

WDR60

PN400215

chr7:
158695184-158695184

A

AT

exonic

Unknown

frameshift insertion

NM_018051

c.1256dupT

p.I419fs

-

-

Leblond2019 E

WDR60

Cukier2014:37674

chr7:
158663939-158663939

A

G

exonic

Unknown

nonsynonymous SNV

NM_018051

c.A176G

p.D59G

9.808

Cukier2014 E

WDR60

PN400576

chr7:
158695184-158695184

A

AT

exonic

Unknown

frameshift insertion

NM_018051

c.1256dupT

p.I419fs

-

-

Leblond2019 E

WDR60

iHART1307

chr7:
158716425-158716425

G

A

splicing

Maternal

splicing

12.46

Ruzzo2019 G

WDR60

SP0058358

chr7:
158664049-158664049

G

A

exonic

De novo

nonsynonymous SNV

NM_018051

c.G286A

p.A96T

3.592

-

Fu2022 E
Trost2022 G
Zhou2022 GE

WDR60

2-1129-003

chr7:
158707892-158707892

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

WDR60

PN400490

chr7:
158695184-158695184

A

AT

exonic

Unknown

frameshift insertion

NM_018051

c.1256dupT

p.I419fs

-

-

Leblond2019 E

WDR60

2-1736-003

chr7:
158767461-158767461

G

A

intergenic

De novo

-

-

Yuen2017 G

WDR60

2-1184-003

chr7:
158709528-158709528

C

G

intronic

De novo

-

-

Yuen2017 G

WDR60

SP0083238

chr7:
158649405-158649405

C

T

UTR5

De novo

-

-

Fu2022 E
Trost2022 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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