Variant Results

or

Results for "CNOT1"

Variant Events: 48

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

CNOT1

5-5014-003

chr16:
58633738-58633738

G

A

intronic

De novo

-

Trost2022 G

CNOT1

1-0025-004

chr16:
58645560-58645561

AC

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNOT1

2-1429-004

chr16:
58647140-58647140

G

A

intronic

De novo

-

Trost2022 G

CNOT1

11491.p1

chr16:
58589410-58589410

G

C

exonic

De novo

nonsynonymous SNV

NM_001265612
NM_016284
NM_206999

c.C2621G
c.C2636G
c.C2636G

p.S874C
p.S879C
p.S879C

29.6

1.671E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

CNOT1

7-0202-003

chr16:
58618532-58618532

A

G

intronic

De novo

-

Trost2022 G

CNOT1

12494.p1

chr16:
58621349-58621353

GAACT

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E

CNOT1

SSC03376

chr16:
58589410-58589410

G

C

exonic

nonsynonymous SNV

NM_001265612
NM_016284
NM_206999

c.C2621G
c.C2636G
c.C2636G

p.S874C
p.S879C
p.S879C

29.6

1.671E-5

Antaki2022 GE

CNOT1

7-0202-003

chr16:
58618535-58618548

CTGCATCCTAACTT

C

intronic

De novo

-

Trost2022 G

CNOT1

5907

chr16:
58589410-58589410

G

C

exonic

De novo

nonsynonymous SNV

NM_001265612
NM_016284
NM_206999

c.C2621G
c.C2636G
c.C2636G

p.S874C
p.S879C
p.S879C

29.6

1.671E-5

Fu2022 E

CNOT1

MSSNG00340-004

chr16:
58610450-58610450

C

A

exonic

De novo

nonsynonymous SNV

NM_001265612
NM_016284
NM_206999

c.G1621T
c.G1621T
c.G1621T

p.A541S
p.A541S
p.A541S

16.96

-

Trost2022 G

CNOT1

13143.p1

chr16:
58554695-58554695

C

T

UTR3

De novo

-

Wilfert2021 G

CNOT1

AGG589

chr16:
58589218-58589218

C

T

exonic

De novo

nonsynonymous SNV

NM_001265612
NM_016284
NM_206999

c.G2813A
c.G2828A
c.G2828A

p.R938H
p.R943H
p.R943H

35.0

-

Fu2022 E

CNOT1

SP0121825

chr16:
58610296-58610296

T

G

intronic

De novo

-

Fu2022 E

CNOT1

7-0202-003

chr16:
58618527-58618527

T

C

intronic

De novo

-

Trost2022 G

CNOT1

REACH000714

chr16:
58575123-58575123

T

C

intronic

De novo

-

Trost2022 G

CNOT1

SP0086658

chr16:
58577017-58577017

C

CA

intronic

De novo

-

Trost2022 G

CNOT1

2-1089-004

chr16:
58650293-58650293

A

C

intronic

De novo

-

Trost2022 G

CNOT1

2-0285-004

chr16:
58650355-58650360

CTTGCT

TTCATC

intronic

De novo

-

Trost2022 G

CNOT1

3-0134-000

chr16:
58647157-58647158

TG

CA

intronic

De novo

-

Trost2022 G

CNOT1

1-0395-003

chr16:
58650079-58650079

C

T

intronic

De novo

-

Yuen2017 G

CNOT1

2-1089-004

chr16:
58650290-58650290

G

A

intronic

De novo

-

Trost2022 G

CNOT1

2-1429-004

chr16:
58647144-58647144

G

C

intronic

De novo

-

Trost2022 G

CNOT1

5-0061-003

chr16:
58647157-58647158

TG

CA

intronic

De novo

-

Trost2022 G

CNOT1

3-0134-000

chr16:
58647140-58647140

G

A

intronic

De novo

-

Trost2022 G

CNOT1

3-0134-000

chr16:
58647144-58647144

G

C

intronic

De novo

-

Trost2022 G

CNOT1

7-0140-003

chr16:
58664627-58664627

A

T

upstream

De novo

-

Trost2022 G
Yuen2017 G

CNOT1

1-0144-004

chr16:
58650345-58650345

C

G

intronic

De novo

-

Yuen2017 G

CNOT1

5-0039-003

chr16:
58655247-58655247

G

C

intronic

De novo

-

Trost2022 G

CNOT1

2-1562-003

chr16:
58650363-58650363

A

G

intronic

De novo

-

Trost2022 G

CNOT1

09C96031

chr16:
58564299-58564299

T

C

intronic

De novo

-

5.947E-5

Kosmicki2017 E

CNOT1

2-1562-003

chr16:
58650367-58650367

C

G

intronic

De novo

-

Trost2022 G

CNOT1

Bruno2021:XVII

chr16:
58608934-58608934

T

C

exonic

De novo

nonsynonymous SNV

NM_001265612
NM_016284
NM_206999

c.A1804G
c.A1804G
c.A1804G

p.T602A
p.T602A
p.T602A

18.08

-

Bruno2021 E

CNOT1

2-1223-003

chr16:
58563179-58563181

TAA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNOT1

2-0018-004

chr16:
58685796-58685796

C

T

intergenic

De novo

-

Yuen2017 G

CNOT1

1-0162-004

chr16:
58650053-58650053

C

T

intronic

De novo

-

Yuen2017 G

CNOT1

2-1605-003

chr16:
58650079-58650079

C

T

intronic

De novo

-

Yuen2017 G

CNOT1

2-1132-003

chr16:
58673804-58673804

C

T

intergenic

De novo

-

Yuen2017 G

CNOT1

1-0206-003

chr16:
58612023-58612023

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNOT1

1-0004-003

chr16:
58650298-58650298

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNOT1

AU2787302

chr16:
58640604-58640604

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNOT1

1-0552-003

chr16:
58601047-58601047

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNOT1

SP0014853

chr16:
58577721-58577721

C

G

exonic

De novo

synonymous SNV

NM_001265612
NM_016284
NM_206999

c.G4209C
c.G4224C
c.G4224C

p.V1403V
p.V1408V
p.V1408V

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CNOT1

SP0010130

chr16:
58568263-58568263

T

G

exonic

De novo

nonsynonymous SNV

NM_001265612
NM_016284

c.A5668C
c.A5683C

p.I1890L
p.I1895L

17.53

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CNOT1

SP0163362

chr16:
58560037-58560037

G

A

exonic

De novo

synonymous SNV

NM_001265612
NM_016284

c.C6444T
c.C6459T

p.D2148D
p.D2153D

-

8.247E-6

Trost2022 G

CNOT1

SP0082966

chr16:
58610296-58610296

T

G

intronic

De novo

-

Fu2022 E

CNOT1

2-0081-003

chr16:
58610325-58610338

ATTAGTAAATAAAC

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNOT1

SP0026753

chr16:
58620504-58620504

T

C

exonic

De novo

synonymous SNV

NM_001265612
NM_016284
NM_206999

c.A582G
c.A582G
c.A582G

p.G194G
p.G194G
p.G194G

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CNOT1

SP0139169

chr16:
58566281-58566281

C

T

exonic

De novo

nonsynonymous SNV

NM_001265612
NM_016284

c.G5899A
c.G5914A

p.G1967R
p.G1972R

31.0

-

Fu2022 E
Trost2022 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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