Variant Results

or

Results for "WDR20"

Variant Events: 22

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

WDR20

4-0017-003

chr14:
102654456-102654456

A

G

intronic

De novo

-

Trost2022 G

WDR20

2-0223-003

chr14:
102655525-102655528

TAAT

CGAC

intronic

De novo

-

Trost2022 G

WDR20

2-0219-004

chr14:
102672662-102672662

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

WDR20

REACH000668

chr14:
102642010-102642010

C

T

intronic

De novo

-

Trost2022 G

WDR20

3-0728-000

chr14:
102653712-102653712

G

A

intronic

De novo

-

Trost2022 G

WDR20

AU072904

chr14:
102609810-102609810

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

WDR20

2-0242-004

chr14:
102637568-102637570

CAA

TGT

intronic

De novo

-

Trost2022 G

WDR20

1-0357-003

chr14:
102637568-102637570

CAA

TGT

intronic

De novo

-

Trost2022 G

WDR20

2-0088-003

chr14:
102637568-102637570

CAA

TGT

intronic

De novo

-

Trost2022 G

WDR20

2-0242-003

chr14:
102637568-102637570

CAA

TGT

intronic

De novo

-

Trost2022 G

WDR20

2-1644-003

chr14:
102637582-102637582

T

C

intronic

De novo

-

Yuen2017 G

WDR20

AU3451301

chr14:
102628465-102628465

A

G

intronic

De novo

-

Yuen2017 G

WDR20

2-0223-003

chr14:
102655539-102655541

CCT

TCC

intronic

De novo

-

Trost2022 G

WDR20

5-5004-003

chr14:
102685400-102685400

G

A

intronic

De novo

-

Trost2022 G

WDR20

2-1382-003

chr14:
102646473-102646473

C

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

WDR20

SP0101760

chr14:
102679167-102679167

T

C

UTR3

De novo

-

Fu2022 E
Trost2022 G

WDR20

AU4028302

chr14:
102635494-102635494

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

WDR20

SP0079229

chr14:
102675017-102675017

G

C

exonic

De novo

synonymous SNV

NM_001242416
NM_181308
NM_001242418
NM_144574
NM_181291
NM_001242417

c.G327C
c.G327C
c.G546C
c.G510C
c.G510C
c.G603C

p.S109S
p.S109S
p.S182S
p.S170S
p.S170S
p.S201S

3.28

-

Fu2022 E
Trost2022 G
Zhou2022 GE

WDR20

MSSNG00438-003

chr14:
102607440-102607440

C

T

intronic

De novo

-

Trost2022 G

WDR20

SP0013376

chr14:
102675666-102675667

AT

A

exonic

De novo

frameshift deletion

NM_001242416
NM_181308
NM_001242418
NM_144574
NM_181291
NM_001242417

c.977delT
c.977delT
c.1196delT
c.1160delT
c.1160delT
c.1253delT

p.I326fs
p.I326fs
p.I399fs
p.I387fs
p.I387fs
p.I418fs

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

WDR20

2-1415-004

chr14:
102637582-102637582

T

C

intronic

De novo

-

Yuen2017 G

WDR20

P1124

chr14:
102675594-102675594

G

A

exonic

De novo

nonsynonymous SNV

NM_001242416
NM_181308
NM_001242418
NM_144574
NM_181291
NM_001242417

c.G904A
c.G904A
c.G1123A
c.G1087A
c.G1087A
c.G1180A

p.V302I
p.V302I
p.V375I
p.V363I
p.V363I
p.V394I

3.24

1.647E-5

Hashimoto2016 E

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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