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Results for "ZC3H3"

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
ZC3H3     3-0169-000chr8:
144607611-144607611
CGintronicDe novo--Yuen2016 G
ZC3H3     1-0329-003chr8:
144613483-144613483
GAintronicDe novo--Yuen2017 G
ZC3H3     SJD_50chr8:
144550669-144550669
CTexonicMaternalnonsynonymous SNVNM_015117c.G1988Ap.R663Q9.081.0E-4Toma2013 E
ZC3H3     12922.p1chr8:
144550618-144550618
CTexonicMosaic, De novononsynonymous SNVNM_015117c.G2039Ap.G680D23.6-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
ZC3H3     1-0215-006chr8:
144630437-144630437
CTintergenicDe novo--Yuen2017 G
ZC3H3     2-1359-003chr8:
144522477-144522477
GAexonicDe novononsynonymous SNVNM_015117c.C2549Tp.T850I10.32-Yuen2015 G
Yuen2017 G
ZC3H3     1-0674-003chr8:
144613982-144613982
CTintronicDe novo--Yuen2017 G
ZC3H3     2-1131-003chr8:
144617365-144617365
TGintronicDe novo--Yuen2016 G
Yuen2017 G
ZC3H3     AU4188302chr8:
144623329-144623329
ATintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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