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Results for "CDON"

Variant Events: 22

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
CDON     1-0377-003chr11:
125878676-125878676
TCintronicDe novo--Yuen2017 G
CDON     AU3874302chr11:
125918825-125918825
CTintronicDe novo--Yuen2017 G
CDON     AU3997302chr11:
126048623-126048623
TCintergenicDe novo--Yuen2017 G
CDON     AU0146301chr11:
125904472-125904474
TAATintronicDe novo--Yuen2017 G
CDON     AU065Achr11:
125831706-125831706
GAexonicDe novononsynonymous SNVNM_001243597
NM_016952
c.C3544T
c.C3544T
p.P1182S
p.P1182S
13.18-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CDON     ASDFI_1124chr11:
125864185-125864185
CTexonicDe novononsynonymous SNVNM_001243597
NM_016952
c.G2644A
c.G2644A
p.V882I
p.V882I
26.3-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CDON     AU2072302chr11:
125887856-125887856
GAintronicDe novo--Yuen2017 G
CDON     DEASD_0445_001chr11:
125871738-125871738
TCexonicDe novosynonymous SNVNM_001243597
NM_016952
c.A2034G
c.A2034G
p.T678T
p.T678T
--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
CDON     2-1577-003chr11:
126031092-126031092
CGintergenicDe novo--Yuen2017 G
CDON     09C84847chr11:
125891438-125891438
TCintronicDe novo-9.196E-5Satterstrom2020 E
CDON     AU2139301chr11:
125935009-125935009
AGintergenicDe novo--Yuen2017 G
CDON     5-0014-004chr11:
125949455-125949455
CTintergenicDe novo--Yuen2017 G
CDON     2-1336-003chr11:
126032356-126032356
ATintergenicDe novo--Yuen2017 G
CDON     iHART1168chr11:
125880416-125880416
GAexonicMaternalstopgainNM_001243597
NM_016952
c.C1372T
c.C1372T
p.R458X
p.R458X
18.958.237E-6Ruzzo2019 G
CDON     AU4444304chr11:
126068265-126068265
GAintergenicDe novo--Yuen2017 G
CDON     12161.p1chr11:
125891290-125891290
AGexonicDe novosynonymous SNVNM_001243597
NM_016952
c.T202C
c.T202C
p.L68L
p.L68L
0.1729.063E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
CDON     2-1421-003chr11:
125843516-125843516
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CDON     2-0286-003chr11:
125971042-125971042
CTintergenicDe novo--Yuen2017 G
CDON     2-0286-003chr11:
125938789-125938789
GTintergenicDe novo--Yuen2017 G
CDON     1-0197-004chr11:
126046605-126046605
CTintergenicDe novo--Yuen2017 G
CDON     1-0590-003chr11:
125969328-125969328
CTintergenicDe novo--Yuen2017 G
CDON     2-1731-003chr11:
125905604-125905604
CTintronicDe 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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