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Results for "CNOT1"

Variant Events: 28

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     1-0025-004chr16:
58645560-58645561
ACAintronicDe novo--Yuen2017 G
CNOT1     11491.p1chr16:
58589410-58589410
GCexonicDe novononsynonymous SNVNM_001265612
NM_016284
NM_206999
c.C2621G
c.C2636G
c.C2636G
p.S874C
p.S879C
p.S879C
29.61.671E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
CNOT1     12494.p1chr16:
58621349-58621353
GAACTGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
CNOT1     SSC03376chr16:
58589410-58589410
GCexonicnonsynonymous SNVNM_001265612
NM_016284
NM_206999
c.C2621G
c.C2636G
c.C2636G
p.S874C
p.S879C
p.S879C
29.61.671E-5Antaki2022 GE
CNOT1     5907chr16:
58589410-58589410
GCexonicDe novononsynonymous SNVNM_001265612
NM_016284
NM_206999
c.C2621G
c.C2636G
c.C2636G
p.S874C
p.S879C
p.S879C
29.61.671E-5Fu2022 E
CNOT1     13143.p1chr16:
58554695-58554695
CTUTR3De novo--Wilfert2021 G
CNOT1     AGG589chr16:
58589218-58589218
CTexonicDe novononsynonymous SNVNM_001265612
NM_016284
NM_206999
c.G2813A
c.G2828A
c.G2828A
p.R938H
p.R943H
p.R943H
35.0-Fu2022 E
CNOT1     SP0121825chr16:
58610296-58610296
TGintronicDe novo--Fu2022 E
CNOT1     1-0395-003chr16:
58650079-58650079
CTintronicDe novo--Yuen2017 G
CNOT1     7-0140-003chr16:
58664627-58664627
ATupstreamDe novo--Yuen2017 G
CNOT1     1-0144-004chr16:
58650345-58650345
CGintronicDe novo--Yuen2017 G
CNOT1     09C96031chr16:
58564299-58564299
TCintronicDe novo-5.947E-5Kosmicki2017 E
CNOT1     Bruno2021:XVIIchr16:
58608934-58608934
TCexonicDe novononsynonymous SNVNM_001265612
NM_016284
NM_206999
c.A1804G
c.A1804G
c.A1804G
p.T602A
p.T602A
p.T602A
18.08-Bruno2021 E
CNOT1     2-1223-003chr16:
58563179-58563181
TAATintronicDe novo--Yuen2017 G
CNOT1     2-0018-004chr16:
58685796-58685796
CTintergenicDe novo--Yuen2017 G
CNOT1     1-0162-004chr16:
58650053-58650053
CTintronicDe novo--Yuen2017 G
CNOT1     2-1605-003chr16:
58650079-58650079
CTintronicDe novo--Yuen2017 G
CNOT1     2-1132-003chr16:
58673804-58673804
CTintergenicDe novo--Yuen2017 G
CNOT1     1-0206-003chr16:
58612023-58612023
AGintronicDe novo--Yuen2017 G
CNOT1     1-0004-003chr16:
58650298-58650298
CAintronicDe novo--Yuen2017 G
CNOT1     AU2787302chr16:
58640604-58640604
GAintronicDe novo--Yuen2017 G
CNOT1     1-0552-003chr16:
58601047-58601047
ACintronicDe novo--Yuen2017 G
CNOT1     SP0014853chr16:
58577721-58577721
CGexonicDe novosynonymous SNVNM_001265612
NM_016284
NM_206999
c.G4209C
c.G4224C
c.G4224C
p.V1403V
p.V1408V
p.V1408V
--Fu2022 E
CNOT1     SP0010130chr16:
58568263-58568263
TGexonicDe novononsynonymous SNVNM_001265612
NM_016284
c.A5668C
c.A5683C
p.I1890L
p.I1895L
17.53-Fu2022 E
CNOT1     SP0082966chr16:
58610296-58610296
TGintronicDe novo--Fu2022 E
CNOT1     2-0081-003chr16:
58610325-58610338
ATTAGTAAATAAACAintronicDe novo--Yuen2017 G
CNOT1     SP0026753chr16:
58620504-58620504
TCexonicDe novosynonymous SNVNM_001265612
NM_016284
NM_206999
c.A582G
c.A582G
c.A582G
p.G194G
p.G194G
p.G194G
--Fu2022 E
CNOT1     SP0139169chr16:
58566281-58566281
CTexonicDe novononsynonymous SNVNM_001265612
NM_016284
c.G5899A
c.G5914A
p.G1967R
p.G1972R
31.0-Fu2022 E
Source Variant Information

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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 notesView
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