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Results for "ZC3H4"

Variant Events: 24

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
ZC3H4     1-0898-003chr19:
47596422-47596422
GCintronicDe novo--Yuen2017 G
ZC3H4     229.03chr19:
47589783-47589783
CTexonicUnknownnonsynonymous SNVNM_015168c.G728Ap.R243Q20.62.613E-5Wang2020 T
ZC3H4     11394.p1chr19:
47572583-47572583
CTexonicDe novononsynonymous SNVNM_015168c.G2164Ap.E722K14.179.825E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
ZC3H4     108846-100chr19:
47589783-47589783
CTexonicUnknownnonsynonymous SNVNM_015168c.G728Ap.R243Q20.62.613E-5Wang2020 T
ZC3H4     12600.p1 Complex Event; expand row to view variants  Mosaic, De novononsynonymous SNV, frameshift deletionNM_015168
NM_015168
c.1346_1347del
c.A1346T
p.K449fs
p.K449M
17.09-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
ZC3H4     12600.p1chr19:
47584867-47584868
CACexonicDe novoframeshift deletionNM_015168c.1342delTp.C448fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wang2020 T
ZC3H4     AU4168306chr19:
47583751-47583751
GTintronicDe novo--Yuen2017 G
ZC3H4     G01-GEA-55-HIchr19:
47570025-47570025
GAexonicDe novononsynonymous SNVNM_015168c.C3500Tp.T1167M9.1557.0E-4Satterstrom2020 E
ZC3H4     00849-T7D4Nchr19:
47593320-47593320
CTexonicUnknownnonsynonymous SNVNM_015168c.G619Ap.D207N21.11.0E-4Wang2020 T
Wang2020 T
ZC3H4     00735-R4K6Qchr19:
47597243-47597243
CAexonicUnknownnonsynonymous SNVNM_015168c.G476Tp.S159I18.621.0E-4Wang2020 T
Wang2020 T
ZC3H4     M20313chr19:
47589754-47589754
GAexonicUnknownnonsynonymous SNVNM_015168c.C757Tp.R253C19.37-Stessman2017 T
Wang2020 T
Wang2020 T
ZC3H4     2771chr19:
47597708-47597708
GAexonicMaternalnonsynonymous SNVNM_015168c.C319Tp.R107W16.158.28E-6Wang2020 T
Wang2020 T
ZC3H4     SSC02972chr19:
47572583-47572583
CTexonicDe novononsynonymous SNVNM_015168c.G2164Ap.E722K14.179.825E-6Lim2017 E
ZC3H4     205.03chr19:
47589783-47589783
CTexonicUnknownnonsynonymous SNVNM_015168c.G728Ap.R243Q20.62.613E-5Wang2020 T
ZC3H4     BK_665.01chr19:
47589783-47589783
CTexonicUnknownnonsynonymous SNVNM_015168c.G728Ap.R243Q20.62.613E-5Wang2020 T
ZC3H4     60617926chr19:
47589778-47589778
GAexonicUnknownnonsynonymous SNVNM_015168c.C733Tp.R245W15.571.0E-4Wang2020 T
Wang2020 T
ZC3H4     7935chr19:
47597261-47597261
CTexonicUnknownnonsynonymous SNVNM_015168c.G458Ap.R153H16.71-Wang2020 T
Wang2020 T
ZC3H4     1-0402-004chr19:
47572189-47572189
CTintronicDe novo--Yuen2017 G
ZC3H4     152407chr19:
47570961-47570961
GAexonicDe novononsynonymous SNVNM_015168c.C2564Tp.T855I11.16-Satterstrom2020 E
ZC3H4     1-0699-003chr19:
47593346-47593346
TGexonicDe novononsynonymous SNVNM_015168c.A593Cp.N198T15.83-Wang2020 T
Yuen2017 G
ZC3H4     2223chr19:
47569885-47569885
TAexonicUnknownstopgainNM_015168c.A3640Tp.R1214X39.0-Wang2020 T
Wang2020 T
ZC3H4     SF0013190.p2chr19:
47575131-47575131
TCexonicDe novononsynonymous SNVNM_015168c.A2050Gp.M684V10.26-Wang2020 T
ZC3H4     471chr19:
47569885-47569885
TAexonicUnknownstopgainNM_015168c.A3640Tp.R1214X39.0-Wang2020 T
Wang2020 T
Wang2020 T
ZC3H4     SF0037251.p1chr19:
47597707-47597707
CTexonicDe novononsynonymous SNVNM_015168c.G320Ap.R107Q28.4-Wang2020 T
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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