Variant Results

or

Results for "WDR81"

Variant Events: 14

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

WDR81

2-1317-003

chr17:
1643303-1643303

C

T

intergenic

De novo

-

Yuen2017 G

WDR81

SP0043150

chr17:
1630886-1630886

C

T

exonic

De novo

nonsynonymous SNV

NM_001163809

c.C2633T

p.P878L

14.09

4.993E-5

Fu2022 E

WDR81

AU188A

chr17:
1636104-1636104

G

A

exonic

De novo

nonsynonymous SNV

NM_001163673
NM_001163809
NM_001163811
NM_152348

c.G859A
c.G4468A
c.G787A
c.G1315A

p.V287M
p.V1490M
p.V263M
p.V439M

20.3

2.572E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

WDR81

Hu2022:36

chr17:
1633670-1633670

G

A

intronic

Maternal

-

5.024E-5

Hu2022 T

WDR81

NDAR_INVLA204TKP_wes1

chr17:
1636946-1636946

G

A

exonic

De novo

nonsynonymous SNV

NM_001163673
NM_001163809
NM_001163811
NM_152348

c.G1006A
c.G4615A
c.G934A
c.G1462A

p.G336R
p.G1539R
p.G312R
p.G488R

0.862

1.0E-4

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

WDR81

UK10K_SKUSE5080165

chr17:
1637187-1637187

C

G

exonic

De novo

nonsynonymous SNV

NM_001163673
NM_001163809
NM_001163811
NM_152348

c.C1247G
c.C4856G
c.C1175G
c.C1703G

p.A416G
p.A1619G
p.A392G
p.A568G

21.0

5.0E-4

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

WDR81

Hu2022:36

chr17:
1636940-1636940

G

A

exonic

Paternal

nonsynonymous SNV

NM_001163673
NM_001163809
NM_001163811
NM_152348

c.G1000A
c.G4609A
c.G928A
c.G1456A

p.G334S
p.G1537S
p.G310S
p.G486S

0.016

5.298E-5

Hu2022 T

WDR81

1-0756-003

chr17:
1624217-1624217

G

A

intronic

De novo

-

Yuen2017 G

WDR81

iHART1518

chr17:
1631509-1631509

C

T

exonic

Maternal

stopgain

NM_001163809
NM_152348

c.C3256T
c.C103T

p.Q1086X
p.Q35X

37.0

-

Ruzzo2019 G

WDR81

SSC00558

chr17:
1636897-1636897

C

A

exonic

De novo

nonsynonymous SNV

NM_001163673
NM_001163809
NM_001163811
NM_152348

c.C957A
c.C4566A
c.C885A
c.C1413A

p.S319R
p.S1522R
p.S295R
p.S471R

12.32

-

Fu2022 E

WDR81

37030

chr17:
1628804-1628804

T

G

exonic

De novo

nonsynonymous SNV

NM_001163809

c.T551G

p.V184G

18.34

-

Fu2022 E

WDR81

iHART2343

chr17:
1638910-1638911

CT

C

exonic

Paternal

frameshift deletion

NM_001163673
NM_001163809
NM_001163811
NM_152348

c.1616delT
c.5225delT
c.1544delT
c.2072delT

p.L539fs
p.L1742fs
p.L515fs
p.L691fs

-

2.55E-5

Ruzzo2019 G

WDR81

iHART1520

chr17:
1631509-1631509

C

T

exonic

Maternal

stopgain

NM_001163809
NM_152348

c.C3256T
c.C103T

p.Q1086X
p.Q35X

37.0

-

Ruzzo2019 G

WDR81

AU3891303

chr17:
1634586-1634586

G

A

intronic

De novo

-

1.059E-5

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
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