Variant Results

or

Results for "WDR4"

Variant Events: 11

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

WDR4

1-0570-003

chr21:
44290015-44290015

C

T

intronic

De novo

-

Yuen2017 G

WDR4

Cukier2014:17351

chr21:
44270267-44270267

C

G

exonic

Unknown

nonsynonymous SNV

NM_001260474
NM_001260475
NM_001260476
NM_001260477
NM_018669
NM_033661

c.G1128C
c.G693C
c.G693C
c.G693C
c.G1131C
c.G1131C

p.E376D
p.E231D
p.E231D
p.E231D
p.E377D
p.E377D

14.13

1.0E-4

Cukier2014 E

WDR4

11977.p1

chr21:
44270229-44270229

C

T

exonic

Mosaic

nonsynonymous SNV

NM_001260474
NM_001260475
NM_001260476
NM_001260477
NM_018669
NM_033661

c.G1166A
c.G731A
c.G731A
c.G731A
c.G1169A
c.G1169A

p.R389Q
p.R244Q
p.R244Q
p.R244Q
p.R390Q
p.R390Q

2.15

0.1888

Dou2017 E

WDR4

36982

chr21:
44272360-44272360

C

T

intronic

De novo

-

Fu2022 E

WDR4

11057_p1

chr21:
44270292-44270292

G

A

exonic

De novo

nonsynonymous SNV

NM_001260474
NM_001260475
NM_001260476
NM_001260477
NM_018669
NM_033661

c.C1103T
c.C668T
c.C668T
c.C668T
c.C1106T
c.C1106T

p.T368I
p.T223I
p.T223I
p.T223I
p.T369I
p.T369I

13.28

1.66E-5

Fu2022 E

WDR4

13961.p1

chr21:
44273814-44273814

C

A

exonic

De novo

nonsynonymous SNV

NM_001260474
NM_001260475
NM_001260476
NM_001260477
NM_018669
NM_033661

c.G837T
c.G402T
c.G402T
c.G402T
c.G840T
c.G840T

p.L279F
p.L134F
p.L134F
p.L134F
p.L280F
p.L280F

10.84

-

Satterstrom2020 E

WDR4

12568.p1

chr21:
44302493-44302493

T

G

intergenic

De novo

-

Turner2016 G

WDR4

AU4468301

chr21:
44294831-44294831

C

T

intronic

De novo

-

Yuen2017 G

WDR4

11057.p1

chr21:
44270292-44270292

G

A

exonic

De novo

nonsynonymous SNV

NM_001260474
NM_001260475
NM_001260476
NM_001260477
NM_018669
NM_033661

c.C1103T
c.C668T
c.C668T
c.C668T
c.C1106T
c.C1106T

p.T368I
p.T223I
p.T223I
p.T223I
p.T369I
p.T369I

13.28

1.66E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G

WDR4

14601.p1

chr21:
44272360-44272360

C

T

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

WDR4

AU3727303

chr21:
44306804-44306804

C

T

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
	More