Variant Results

or

Results for "CUL9"

Variant Events: 17

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

CUL9

AC02-1141-01

chr6:
43191842-43191842

G

A

exonic

De novo

nonsynonymous SNV

NM_015089

c.G7294A

p.V2432I

14.79

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CUL9

21165-33301

chr6:
43188203-43188204

TG

T

exonic

stopgain

NM_015089

c.6290delG

p.W2097X

-

Callaghan2019 G

CUL9

SP0099595

chr6:
43153833-43153833

G

C

exonic

De novo

nonsynonymous SNV

NM_015089

c.G891C

p.Q297H

13.86

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CUL9

SP0036212

chr6:
43172459-43172459

C

T

intronic

De novo

-

Fu2022 E

CUL9

REACH000249

chr6:
43181651-43181651

G

A

splicing

De novo

splicing

24.5

-

Antaki2022 GE
Trost2022 G
Zhou2022 GE

CUL9

AU2463301

chr6:
43168010-43168010

G

A

intronic

De novo

-

Trost2022 G

CUL9

1-0549-003

chr6:
43169449-43169449

C

T

intronic

De novo

-

Trost2022 G

CUL9

SP0200806

chr6:
43154127-43154130

TGAG

T

exonic

De novo

nonframeshift deletion

NM_015089

c.1186_1188del

p.396_396del

-

Trost2022 G

CUL9

MT_160.4

chr6:
43166277-43166277

C

G

intronic

De novo

-

Trost2022 G

CUL9

5-0015-003

chr6:
43154551-43154551

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUL9

11558.p1

chr6:
43173047-43173047

G

A

exonic

De novo

nonsynonymous SNV

NM_015089

c.G4679A

p.G1560D

18.36

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

CUL9

SSC06476

chr6:
43184100-43184100

G

A

exonic

De novo

synonymous SNV

NM_015089

c.G6141A

p.E2047E

-

Lim2017 E

CUL9

13005.p1

chr6:
43184100-43184100

G

A

exonic

De novo

synonymous SNV

NM_015089

c.G6141A

p.E2047E

-

Krumm2015 E
Zhou2022 GE

CUL9

2-1441-003

chr6:
43163042-43163042

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUL9

AU4467302

chr6:
43178013-43178013

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUL9

SSC01947

chr6:
43173047-43173047

G

A

exonic

De novo

nonsynonymous SNV

NM_015089

c.G4679A

p.G1560D

18.36

-

Fu2022 E
Lim2017 E
Trost2022 G

CUL9

G01-GEA-135-HI

chr6:
43164569-43164569

C

T

exonic

De novo

synonymous SNV

NM_015089

c.C2772T

p.Y924Y

-

Lim2017 E

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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