Variant Results

or

Results for "CNOT4"

Variant Events: 13

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

CNOT4

1-0345-003

chr7:
135141276-135141276

C

T

intronic

De novo

-

Yuen2017 G

CNOT4

1-0551-004

chr7:
135084486-135084486

T

C

intronic

De novo

-

Yuen2017 G

CNOT4

AU1668302

chr7:
135194096-135194096

G

T

intronic

De novo

-

Yuen2017 G

CNOT4

AU3777302

chr7:
135166115-135166115

T

C

intronic

De novo

-

Yuen2017 G

CNOT4

GEA343

chr7:
135047856-135047856

G

C

exonic

De novo

synonymous SNV

NM_001190847
NM_013316
NM_001190849
NM_001190850

c.C1710G
c.C1701G
c.C1914G
c.C1923G

p.L570L
p.L567L
p.L638L
p.L641L

-

Fu2022 E

CNOT4

SP0139923

chr7:
135079021-135079021

G

C

exonic

De novo

nonsynonymous SNV

NM_001008225
NM_001190847
NM_001190848
NM_001190849
NM_001190850
NM_013316

c.C1267G
c.C1276G
c.C1276G
c.C1267G
c.C1276G
c.C1267G

p.Q423E
p.Q426E
p.Q426E
p.Q423E
p.Q426E
p.Q423E

14.02

-

Fu2022 E

CNOT4

08C76114

chr7:
135080611-135080611

G

C

exonic

De novo

nonsynonymous SNV

NM_001008225
NM_001190847
NM_001190848
NM_001190849
NM_001190850
NM_013316

c.C895G
c.C904G
c.C904G
c.C895G
c.C904G
c.C895G

p.P299A
p.P302A
p.P302A
p.P299A
p.P302A
p.P299A

19.1

-

Fu2022 E
Satterstrom2020 E

CNOT4

13415.p1

chr7:
135122938-135122938

C

T

exonic

De novo

nonsynonymous SNV

NM_001008225
NM_001190847
NM_001190848
NM_001190849
NM_001190850
NM_013316

c.G142A
c.G142A
c.G142A
c.G142A
c.G142A
c.G142A

p.D48N
p.D48N
p.D48N
p.D48N
p.D48N
p.D48N

21.4

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

CNOT4

1-0265-004

chr7:
135070663-135070663

G

T

intronic

De novo

-

Yuen2017 G

CNOT4

12389.p1

chr7:
135095264-135095264

C

T

splicing

Paternal

splicing

16.71

1.662E-5

O’Roak2012a T

CNOT4

1-0224-004

chr7:
135052794-135052794

G

A

intronic

De novo

-

Yuen2017 G

CNOT4

1-0265-003

chr7:
135070663-135070663

G

T

intronic

De novo

-

Yuen2017 G

CNOT4

Uddin2014:42

chr7:
135122938-135122938

C

T

exonic

De novo

nonsynonymous SNV

NM_001008225
NM_001190847
NM_001190848
NM_001190849
NM_001190850
NM_013316

c.G142A
c.G142A
c.G142A
c.G142A
c.G142A
c.G142A

p.D48N
p.D48N
p.D48N
p.D48N
p.D48N
p.D48N

21.4

-

Uddin2014 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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