Variant Results

or

Results for "WDR26"

Variant Events: 23

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

WDR26

PN400323

chr1:
224585814-224585814

C

T

exonic

Unknown

nonsynonymous SNV

NM_001115113
NM_025160

c.G1711A
c.G1759A

p.A571T
p.A587T

28.1

5.783E-5

Leblond2019 E

WDR26

AU4176302

chr1:
224662184-224662184

G

A

intergenic

De novo

-

Yuen2017 G

WDR26

14015.p1

chr1:
224625794-224625794

T

C

intergenic

De novo

-

Turner2016 G

WDR26

13489_p1

chr1:
224612259-224612259

G

A

exonic

De novo

nonsynonymous SNV

NM_001115113
NM_025160

c.C677T
c.C725T

p.P226L
p.P242L

28.5

-

Fu2022 E

WDR26

13489.p1

chr1:
224612259-224612259

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001115113
NM_025160

c.C677T
c.C725T

p.P226L
p.P242L

28.5

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T

WDR26

160820

chr1:
224599211-224599211

C

T

exonic

De novo

stopgain

NM_001115113
NM_025160

c.G1028A
c.G1076A

p.W343X
p.W359X

41.0

-

Fu2022 E

WDR26

JASD_Fam0093

chr1:
224599157-224599157

G

C

exonic

De novo

nonsynonymous SNV

NM_001115113
NM_025160

c.C1082G
c.C1130G

p.T361R
p.T377R

26.7

-

Takata2018 E

WDR26

1-0972-003

chr1:
224771088-224771088

C

T

intergenic

De novo

-

Yuen2017 G

WDR26

Gecz3_43092

chr1:
224599256-224599256

G

A

exonic

Unknown

nonsynonymous SNV

NM_001115113
NM_025160

c.C983T
c.C1031T

p.P328L
p.P344L

31.0

-

Wang2020 T

WDR26

12680.p1

chr1:
224778389-224778389

C

A

intergenic

De novo

-

Turner2016 G

WDR26

Iowa_129_1_a.2.1

chr1:
224585814-224585814

C

T

exonic

Unknown

nonsynonymous SNV

NM_001115113
NM_025160

c.G1711A
c.G1759A

p.A571T
p.A587T

28.1

5.783E-5

Wang2020 T

WDR26

ACGC_SD0120.p1

chr1:
224606065-224606065

G

A

exonic

Maternal

nonsynonymous SNV

NM_001115113
NM_025160

c.C868T
c.C916T

p.R290W
p.R306W

23.6

-

Wang2020 T

WDR26

Gecz3_42724

chr1:
224599256-224599256

G

A

exonic

Unknown

nonsynonymous SNV

NM_001115113
NM_025160

c.C983T
c.C1031T

p.P328L
p.P344L

31.0

-

Wang2020 T

WDR26

Gecz3_39826

chr1:
224599256-224599256

G

A

exonic

Unknown

nonsynonymous SNV

NM_001115113
NM_025160

c.C983T
c.C1031T

p.P328L
p.P344L

31.0

-

Wang2020 T

WDR26

1-0665-003

chr1:
224739421-224739421

G

A

intergenic

De novo

-

Yuen2017 G

WDR26

SSC07686

chr1:
224612259-224612259

G

A

exonic

nonsynonymous SNV

NM_001115113
NM_025160

c.C677T
c.C725T

p.P226L
p.P242L

28.5

-

Antaki2022 GE

WDR26

1-0299-004

chr1:
224670065-224670065

C

A

intergenic

De novo

-

Yuen2017 G

WDR26

7-0255-003

chr1:
224648065-224648065

A

C

intergenic

De novo

-

Yuen2017 G

WDR26

Leuven2_60327940

chr1:
224606038-224606038

G

A

exonic

Unknown

nonsynonymous SNV

NM_001115113
NM_025160

c.C895T
c.C943T

p.R299W
p.R315W

35.0

8.24E-6

Wang2020 T

WDR26

1-0054-004

chr1:
224618762-224618762

C

G

intronic

De novo

-

Yuen2017 G

WDR26

1-0171-005

chr1:
224799330-224799330

G

A

intergenic

De novo

-

Yuen2017 G

WDR26

AU3702307

chr1:
224748431-224748431

C

T

intergenic

De novo

-

Yuen2017 G

WDR26

ACGC_HEN0088.p1

chr1:
224588651-224588651

C

T

splicing

Unknown

splicing

25.3

-

Wang2020 T

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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