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Results for "ZC3H3"

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
ZC3H3     MSSNG00039-003chr8:
144600331-144600331
GCintronicDe novo--Trost2022 G
ZC3H3     3-0467-000chr8:
144616834-144616834
CTintronicDe novo--Trost2022 G
ZC3H3     MSSNG00253-003chr8:
144585965-144585965
TCintronicDe novo--Trost2022 G
ZC3H3     4-0062-003chr8:
144590836-144590836
CTintronicDe novo--Trost2022 G
ZC3H3     5-1043-003chr8:
144554320-144554320
GCintronicDe novo--Trost2022 G
ZC3H3     5-5022-003chr8:
144579269-144579269
TGintronicDe novo--Trost2022 G
ZC3H3     MSSNG00245-003chr8:
144532673-144532673
TCintronicDe novo--Trost2022 G
ZC3H3     MSSNG00133-003chr8:
144548725-144548725
GAintronicDe novo--Trost2022 G
ZC3H3     SSC06853chr8:
144550618-144550618
CTexonicDe novononsynonymous SNVNM_015117c.G2039Ap.G680D23.6-Fu2022 E
Trost2022 G
ZC3H3     SP0142526chr8:
144624001-144624001
GAupstreamDe novo--Trost2022 G
ZC3H3     1-0674-003chr8:
144613982-144613982
CTintronicDe novo--Trost2022 G
Yuen2017 G
ZC3H3     2-1131-003chr8:
144617365-144617365
TGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ZC3H3     SP0030741chr8:
144623817-144623817
TAupstreamDe novo--Trost2022 G
ZC3H3     SP0098944chr8:
144623998-144623998
GCupstreamDe novo--Trost2022 G
ZC3H3     3-0169-000chr8:
144607611-144607611
CGintronicDe novo--Yuen2016 G
ZC3H3     1-0329-003chr8:
144613483-144613483
GAintronicDe novo--Trost2022 G
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
Zhou2022 GE
ZC3H3     1-0215-006chr8:
144630437-144630437
CTintergenicDe novo--Yuen2017 G
ZC3H3     3-0475-000chr8:
144618555-144618555
CTexonicnonsynonymous SNVNM_015117c.G1433Ap.R478Q21.62.144E-5Zhou2022 GE
ZC3H3     2-1359-003chr8:
144522477-144522477
GAexonicDe novononsynonymous SNVNM_015117c.C2549Tp.T850I10.32-Yuen2015 G
Yuen2017 G
Zhou2022 GE
ZC3H3     AU4188302chr8:
144623329-144623329
ATintronicDe novo--Trost2022 G
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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