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Results for "C2CD3"

Variant Events: 9

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
C2CD3     Cukier2014:37037chr11:
73850002-73850002
GCexonicUnknownnonsynonymous SNVNM_001286577
NM_015531
c.C718G
c.C718G
p.H240D
p.H240D
10.890.0121Cukier2014 E
C2CD3     2-1689-003chr11:
73770886-73770886
AGintronicDe novo--Yuen2017 G
C2CD3     AU072905chr11:
73876118-73876118
ACintronicDe novo--Yuen2017 G
C2CD3     AU116Achr11:
73809244-73809244
TCexonicDe novononsynonymous SNVNM_001286577
NM_015531
c.A2789G
c.A2789G
p.D930G
p.D930G
28.1-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
C2CD3     NDAR_INVUZ464WLX_wes1chr11:
73824967-73824967
TAintronicDe novo-3.636E-5Kosmicki2017 E
Satterstrom2020 E
C2CD3     AU0039303chr11:
73770183-73770183
TCintronicDe novo--Yuen2017 G
C2CD3     A21chr11:
73787781-73787781
GTintronicDe novo--Wu2018 G
C2CD3     13523.p1chr11:
73748708-73748708
TCexonicDe novononsynonymous SNVNM_001286577
NM_015531
c.A5696G
c.A5696G
p.Y1899C
p.Y1899C
20.3-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
C2CD3     13931.p1chr11:
73843995-73843995
GCexonicMosaic, De novononsynonymous SNVNM_001286577
NM_015531
c.C1111G
c.C1111G
p.R371G
p.R371G
11.8-Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 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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