Variant Results

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Results for "CUX2"

Variant Events: 16

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

CUX2

SP0076599

chr12:
111758113-111758113

T

C

exonic

De novo

nonsynonymous SNV

NM_015267

c.T2300C

p.F767S

13.52

-

Antaki2022 GE
Fu2022 E

CUX2

2-1174-006

chr12:
111636193-111636193

C

A

intronic

De novo

-

-

Yuen2017 G

CUX2

14137.p1

chr12:
111757982-111757982

G

GC

exonic

De novo

frameshift insertion

NM_015267

c.2170dupC

p.V723fs

-

-

Wilfert2021 G

CUX2

2-1398-004

chr12:
111790288-111790292

TACTC

T

intergenic

De novo

-

-

Yuen2017 G

CUX2

SP0084226

chr12:
111757719-111757719

A

C

intronic

De novo

-

-

Fu2022 E

CUX2

3-0027-001

chr12:
111785392-111785392

G

A

exonic

De novo

nonsynonymous SNV

NM_015267

c.G3724A

p.G1242R

15.57

Yuen2015 G

CUX2

AU3051302

chr12:
111525781-111525781

C

T

intronic

De novo

-

-

Yuen2017 G

CUX2

SP0085623

chr12:
111471946-111471946

A

G

UTR5

De novo

-

-

Fu2022 E

CUX2

EGAN00001100880

chr12:
111748331-111748331

G

A

exonic

De novo

nonsynonymous SNV

NM_015267

c.G1745A

p.G582E

17.51

-

Fu2022 E
Satterstrom2020 E

CUX2

AU024004

chr12:
111732322-111732322

G

C

intronic

De novo

-

-

Yuen2017 G

CUX2

DEASD_0049_001

chr12:
111748483-111748483

C

T

exonic

De novo

stopgain

NM_015267

c.C1897T

p.R633X

37.0

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

CUX2

304-09-111628

chr12:
111749995-111749995

G

T

exonic

De novo

synonymous SNV

NM_015267

c.G1992T

p.S664S

-

-

Fu2022 E
Satterstrom2020 E

CUX2

AU1308303

chr12:
111714202-111714202

G

A

intronic

De novo

-

-

Yuen2017 G

CUX2

2-1180-003

chr12:
111548904-111548904

G

A

intronic

De novo

-

-

Yuen2016 G

CUX2

A1380B

chr12:
111744801-111744801

G

A

exonic

De novo

nonsynonymous SNV

NM_015267

c.G935A

p.R312Q

17.48

Fu2022 E

CUX2

2-1375-003

chr12:
111624116-111624116

G

A

intronic

De novo

-

-

Yuen2016 G
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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