Variant Results

or

or

Results for "WDR33"

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

WDR33

36966

chr2:
128481973-128481974

AT

A

exonic

De novo

stopgain

NM_018383

c.1129delA

p.M377X

-

-

Fu2022 E
Trost2022 G

WDR33

1-0007-003

chr2:
128554174-128554189

ACTCTCTCTCTCTCTC

ACTCTCTCTCTCTC

intronic

De novo

-

-

Yuen2017 G

WDR33

SP0028274

chr2:
128467256-128467256

A

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

WDR33

SSC12307

chr2:
128481973-128481974

AT

A

exonic

stopgain

NM_018383

c.1129delA

p.M377X

-

-

Antaki2022 GE

WDR33

14596.p1

chr2:
128481973-128481974

AT

A

exonic

De novo

stopgain

NM_018383

c.1129delA

p.M377X

-

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

WDR33

SP0064644

chr2:
128522215-128522215

C

T

exonic

De novo

synonymous SNV

NM_001006622

c.G813A

p.V271V

-

Trost2022 G
Zhou2022 GE

WDR33

10-1019-003

chr2:
128554804-128554804

G

A

intronic

De novo

-

-

Trost2022 G

WDR33

5-0025-003

chr2:
128554804-128554804

G

A

intronic

De novo

-

-

Trost2022 G

WDR33

1-0465-003A

chr2:
128511897-128511897

G

A

intronic

De novo

-

-

Trost2022 G

WDR33

215-13170-1873

chr2:
128522378-128522378

G

A

exonic

De novo

nonsynonymous SNV

NM_001006622

c.C650T

p.S217F

15.21

-

O’Roak2014 T

WDR33

2-0122-004

chr2:
128550125-128550130

CCAGCT

GCTTGA

intronic

De novo

-

-

Trost2022 G

WDR33

3-0728-000

chr2:
128487449-128487452

AAAT

A

intronic

De novo

-

-

Trost2022 G

WDR33

SP0064644

chr2:
128522474-128522474

A

T

exonic

De novo

nonsynonymous SNV

NM_001006622
NM_001006623
NM_018383

c.T554A
c.T554A
c.T554A

p.V185E
p.V185E
p.V185E

20.3

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

WDR33

MSSNG00124-003

chr2:
128500655-128500655

C

T

intronic

De novo

-

-

Trost2022 G

WDR33

1-0507-003

chr2:
128534201-128534201

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

WDR33

5-5016-003

chr2:
128469011-128469011

A

AG

intronic

De novo

-

-

Trost2022 G

WDR33

G01-GEA-310_HI

chr2:
128528516-128528516

T

C

exonic

De novo

nonsynonymous SNV

NM_001006622
NM_001006623
NM_018383

c.A40G
c.A40G
c.A40G

p.M14V
p.M14V
p.M14V

14.93

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

WDR33

1-0465-003a

chr2:
128511897-128511897

G

A

intronic

De novo

-

-

Yuen2017 G

WDR33

REACH000219

chr2:
128556553-128556553

C

G

intronic

De novo

-

-

Trost2022 G

WDR33

1-0465-003

chr2:
128511897-128511897

G

A

intronic

De novo

-

-

Yuen2017 G

WDR33

10-1019-003

chr2:
128554807-128554807

T

C

intronic

De novo

-

-

Trost2022 G

WDR33

5-0025-003

chr2:
128554807-128554807

T

C

intronic

De novo

-

-

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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