Variant Results

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Results for "WDR59"

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

WDR59

1-0512-003

chr16:
74997825-74997840

AAGAGAGAGAGAGAGA

AAGAGAGAGAGAGA

intronic

De novo

-

-

Yuen2017 G

WDR59

1-0567-004

chr16:
75024712-75024712

T

C

intergenic

De novo

-

-

Yuen2017 G

WDR59

1-0385-003

chr16:
74933723-74933723

G

A

intronic

De novo

-

-

Yuen2017 G

WDR59

200675674_1082034765

chr16:
74927685-74927685

C

T

exonic

De novo

nonsynonymous SNV

NM_030581

c.G1892A

p.R631H

32.0

Fu2022 E

WDR59

AU4154303

chr16:
74958436-74958436

C

A

intronic

De novo

-

-

Yuen2017 G

WDR59

08C75239

chr16:
74908277-74908277

C

T

exonic

De novo

nonsynonymous SNV

NM_030581

c.G2755A

p.G919S

18.64

-

Fu2022 E
Satterstrom2020 E

WDR59

SP0042045

chr16:
74927570-74927570

T

G

intronic

De novo

-

-

Fu2022 E

WDR59

SP0082603

chr16:
74922062-74922062

C

T

intronic

De novo

-

-

Fu2022 E

WDR59

Chen2017:103

chr16:
74927685-74927685

C

T

exonic

De novo

nonsynonymous SNV

NM_030581

c.G1892A

p.R631H

32.0

Chen2017 E

WDR59

1-0552-003

chr16:
74997825-74997840

AAGAGAGAGAGAGAGA

AAGAGAGAGAGAGA

intronic

De novo

-

-

Yuen2017 G

WDR59

SP0077999

chr16:
74982447-74982449

TTG

T

exonic

De novo

frameshift deletion

NM_030581

c.413_414del

p.T138fs

-

-

Fu2022 E

WDR59

A30

chr16:
74918370-74918370

C

T

intronic

De novo

-

-

Wu2018 G

WDR59

13069.p1

chr16:
75010566-75010566

T

C

intronic

De novo

-

-

Turner2016 G

WDR59

5-0138-003

chr16:
74996366-74996366

T

G

intronic

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
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