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Results for "CNOT1"

Variant Events: 19

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     1-0162-004chr16:
58650053-58650053
CTintronicDe novo--Yuen2017 G
CNOT1     12494.p1chr16:
58621349-58621353
GAACTGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
CNOT1     2-1605-003chr16:
58650079-58650079
CTintronicDe novo--Yuen2017 G
CNOT1     13143.p1chr16:
58554695-58554695
CTUTR3De novo--Wilfert2021 G
CNOT1     2-1132-003chr16:
58673804-58673804
CTintergenicDe novo--Yuen2017 G
CNOT1     1-0395-003chr16:
58650079-58650079
CTintronicDe novo--Yuen2017 G
CNOT1     1-0206-003chr16:
58612023-58612023
AGintronicDe novo--Yuen2017 G
CNOT1     1-0004-003chr16:
58650298-58650298
CAintronicDe novo--Yuen2017 G
CNOT1     7-0140-003chr16:
58664627-58664627
ATupstreamDe novo--Yuen2017 G
CNOT1     1-0144-004chr16:
58650345-58650345
CGintronicDe novo--Yuen2017 G
CNOT1     AU2787302chr16:
58640604-58640604
GAintronicDe novo--Yuen2017 G
CNOT1     09C96031chr16:
58564299-58564299
TCintronicDe novo-5.947E-5Kosmicki2017 E
CNOT1     1-0552-003chr16:
58601047-58601047
ACintronicDe novo--Yuen2017 G
CNOT1     2-0081-003chr16:
58610325-58610338
ATTAGTAAATAAACAintronicDe novo--Yuen2017 G
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
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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