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Results for "CNOT4"

Variant Events: 11

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     1-0345-003chr7:
135141276-135141276
CTintronicDe novo--Yuen2017 G
CNOT4     1-0551-004chr7:
135084486-135084486
TCintronicDe novo--Yuen2017 G
CNOT4     AU1668302chr7:
135194096-135194096
GTintronicDe novo--Yuen2017 G
CNOT4     AU3777302chr7:
135166115-135166115
TCintronicDe novo--Yuen2017 G
CNOT4     13415.p1chr7:
135122938-135122938
CTexonicDe novononsynonymous SNVNM_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     1-0265-004chr7:
135070663-135070663
GTintronicDe novo--Yuen2017 G
CNOT4     12389.p1chr7:
135095264-135095264
CTsplicingPaternalsplicing16.711.662E-5O’Roak2012a T
CNOT4     1-0224-004chr7:
135052794-135052794
GAintronicDe novo--Yuen2017 G
CNOT4     1-0265-003chr7:
135070663-135070663
GTintronicDe novo--Yuen2017 G
CNOT4     Uddin2014:42chr7:
135122938-135122938
CTexonicDe novononsynonymous SNVNM_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
CNOT4     08C76114chr7:
135080611-135080611
GCexonicDe novononsynonymous SNVNM_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-Satterstrom2020 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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