Variant Results

or

Results for "CNOT3"

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

CNOT3

SSC05030

chr19:
54656675-54656677

CTG

C

exonic

frameshift deletion

NM_014516

c.1977_1978del

p.T659fs

-

Antaki2022 GE

CNOT3

M32044

chr19:
54649484-54649484

G

A

exonic

Maternal

nonsynonymous SNV

NM_014516

c.G634A

p.D212N

35.0

-

Guo2018 T

CNOT3

SP0049224

chr19:
54649413-54649413

G

A

exonic

De novo

nonsynonymous SNV

NM_014516

c.G563A

p.R188H

34.0

-

Fu2022 E
Zhou2022 GE

CNOT3

3-0471-000

chr19:
54657578-54657578

G

C

splicing

De novo

splicing

19.09

-

Trost2022 G
Zhou2022 GE

CNOT3

22196.p1

chr19:
54656719-54656722

ATCT

A

exonic

nonframeshift deletion

NM_014516

c.2021_2023del

p.674_675del

-

Zhou2022 GE

CNOT3

217-14342-4560

chr19:
54649666-54649666

T

TC

exonic

De novo

frameshift insertion

NM_014516

c.725dupC

p.S242fs

-

0.0026

O’Roak2014 T

CNOT3

3E475

chr19:
54652149-54652149

G

A

exonic

De novo

synonymous SNV

NM_014516

c.G1161A

p.Q387Q

6.454

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CNOT3

Wang2023:679

chr19:
54657519-54657519

A

G

exonic

De novo

nonsynonymous SNV

NM_014516

c.A2105G

p.Y702C

20.4

-

Wang2023 E

CNOT3

SP0252837

chr19:
54649541-54649541

C

CT

exonic

De novo

frameshift insertion

NM_014516

c.692dupT

p.L231fs

-

Trost2022 G
Zhou2022 GE

CNOT3

ASC_CA_77_A

chr19:
54649398-54649398

T

G

exonic

De novo

nonsynonymous SNV

NM_014516

c.T548G

p.L183R

22.5

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CNOT3

12444.p1

chr19:
54656675-54656677

CTG

C

exonic

De novo

frameshift deletion

NM_014516

c.1977_1978del

p.T659fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

CNOT3

SSC00803

chr19:
54656806-54656806

G

T

intronic

De novo

-

Fu2022 E

CNOT3

1-1161-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

CNOT3

SP0126519

chr19:
54649737-54649737

C

T

exonic

De novo

synonymous SNV

NM_014516

c.C795T

p.T265T

9.865

-

Trost2022 G

CNOT3

1-0440-003

chr19:
54653360-54653362

CAG

C

exonic

De novo

frameshift deletion

NM_014516

c.1473_1474del

p.S491fs

-

Yuen2017 G
Zhou2022 GE

CNOT3

Mahjani2021:42

chr19:
54657542-54657542

G

A

exonic

nonsynonymous SNV

NM_014516

c.G2128A

p.E710K

27.0

-

Mahjani2021 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
	More