Variant Results

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Results for "WDR45"

Variant Events: 12

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

WDR45

P044

chrX:
48933541-48933541

C

T

exonic

De novo

nonsynonymous SNV

NM_001029896
NM_007075

c.G500A
c.G503A

p.G167E
p.G168E

18.51

-

Long2019 ET

WDR45

SP0016143

chrX:
48935703-48935703

G

A

exonic

stopgain

NM_001029896
NM_007075

c.C52T
c.C52T

p.Q18X
p.Q18X

36.0

-

Zhou2022 GE

WDR45

G007340

chrX:
48935311-48935311

C

CT

exonic

frameshift insertion

NM_001029896
NM_007075

c.225dupA
c.225dupA

p.E76fs
p.E76fs

-

-

Sanchis-Juan2023 G

WDR45

12736.p1

chrX:
48932930-48932930

C

T

exonic

De novo

nonsynonymous SNV

NM_001029896
NM_007075

c.G838A
c.G841A

p.V280M
p.V281M

9.933

Iossifov2014 E
Kosmicki2017 E

WDR45

G007339

chrX:
48935311-48935311

C

CT

exonic

frameshift insertion

NM_001029896
NM_007075

c.225dupA
c.225dupA

p.E76fs
p.E76fs

-

-

Sanchis-Juan2023 G

WDR45

AU000704

chrX:
48965333-48965338

GAAAAA

GAAAA

intergenic

De novo

-

-

Yuen2017 G

WDR45

1-0104-003

chrX:
48934085-48934085

T

A

intronic

De novo

-

-

Yuen2017 G
Zhou2022 GE

WDR45

2-1485-003

chrX:
48940869-48940869

A

C

intronic

De novo

-

-

Yuen2017 G

WDR45

1-0305-004

chrX:
48940869-48940869

A

C

intronic

De novo

-

-

Yuen2017 G

WDR45

1-0180-004

chrX:
48940869-48940869

A

C

intronic

De novo

-

-

Yuen2017 G

WDR45

2-0307-004

chrX:
48940869-48940869

A

C

intronic

De novo

-

-

Yuen2017 G

WDR45

21974-35254

chrX:
48933022-48933022

C

T

splicing

De novo

splicing

16.7

-

Callaghan2019 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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