Variant Results

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Results for "CDC42EP4"

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

CDC42EP4

2-1702-004

chr17:
71320501-71320501

G

A

intergenic

De novo

-

-

Yuen2017 G

CDC42EP4

AU4234302

chr17:
71309443-71309443

T

C

intergenic

De novo

-

-

Yuen2017 G

CDC42EP4

1-0274-004

chr17:
71327853-71327856

GTTA

G

intergenic

De novo

-

-

Yuen2017 G

CDC42EP4

1-0274-003

chr17:
71327853-71327856

GTTA

G

intergenic

De novo

-

-

Yuen2017 G

CDC42EP4

5-5015-003

chr17:
71308486-71308486

C

T

upstream

De novo

-

-

Trost2022 G

CDC42EP4

1-0352-003

chr17:
71281677-71281677

G

A

exonic

De novo

synonymous SNV

NM_012121

c.C963T

p.R321R

-

-

Yuen2016 G

CDC42EP4

10-1118-003

chr17:
71289579-71289594

AGACAGGATCAAATGG

A

intronic

De novo

-

-

Trost2022 G

CDC42EP4

REACH000727

chr17:
71290512-71290513

CA

C

intronic

De novo

-

-

Trost2022 G

CDC42EP4

1-0201-005

chr17:
71292496-71292496

G

GGTTA

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CDC42EP4

SP0031229

chr17:
71282511-71282511

G

A

exonic

De novo

synonymous SNV

NM_012121

c.C129T

p.A43A

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CDC42EP4

99HI1000A

chr17:
71282272-71282272

T

A

exonic

De novo

nonsynonymous SNV

NM_012121

c.A368T

p.N123I

18.97

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CDC42EP4

SP0046030

chr17:
71281930-71281930

C

A

exonic

De novo

nonsynonymous SNV

NM_012121

c.G710T

p.G237V

3.017

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CDC42EP4

1-0352-005

chr17:
71281677-71281677

G

A

exonic

De novo

synonymous SNV

NM_012121

c.C963T

p.R321R

-

-

Trost2022 G
Zhou2022 GE

CDC42EP4

2-0323-003

chr17:
71281964-71281964

C

A

exonic

De novo

nonsynonymous SNV

NM_012121

c.G676T

p.D226Y

17.31

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

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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