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Results for "ZC4H2"

Variant Events: 17

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
ZC4H2     1-0099-003chrX:
64337266-64337266
CTintergenicDe novo--Yuen2017 G
ZC4H2     AU3720302chrX:
64493690-64493698
GAAAAAAAAGAAAAAAAAAintergenicDe novo--Yuen2017 G
ZC4H2     G004769chrX:
64140024-64140024
CTexonicnonsynonymous SNVNM_001178032
NM_001178033
NM_001243804
NM_018684
c.G266A
c.G335A
c.G266A
c.G335A
p.R89H
p.R112H
p.R89H
p.R112H
32.0-Sanchis-Juan2023 G
ZC4H2     AU3846302chrX:
64421953-64421955
TTATTATATAintergenicDe novo--Yuen2017 G
ZC4H2     AU4308302chrX:
64322964-64322964
CGintergenicDe novo--Yuen2017 G
ZC4H2     7-0192-003chrX:
64341515-64341515
GAintergenicDe novo--Yuen2017 G
ZC4H2     1-0453-003chrX:
64656063-64656063
CGintergenicDe novo--Yuen2017 G
ZC4H2     AU3866301chrX:
64680491-64680491
GCintergenicDe novo--Yuen2017 G
ZC4H2     1-0452-003chrX:
64288989-64288989
CAintergenicDe novo--Yuen2017 G
ZC4H2     7-0133-003chrX:
64543984-64543984
ACintergenicDe novo--Yuen2017 G
ZC4H2     1-0804-003chrX:
64250674-64250674
CTintronicDe novo--Yuen2017 G
ZC4H2     2-0142-003chrX:
64159473-64159473
CTintronicDe novo--Yuen2017 G
ZC4H2     AU074403chrX:
64380398-64380398
AGintergenicDe novo--Yuen2017 G
ZC4H2     Hu2022:73chrX:
64137775-64137775
GAexonicMaternalnonsynonymous SNVNM_001178033
NM_001178032
NM_001243804
NM_018684
c.C400T
c.C494T
c.C494T
c.C563T
p.P134S
p.A165V
p.A165V
p.A188V
21.2-Hu2022 T
ZC4H2     SP0070924chrX:
64140050-64140050
TGexonicsynonymous SNVNM_001178032
NM_001178033
NM_001243804
NM_018684
c.A240C
c.A309C
c.A240C
c.A309C
p.P80P
p.P103P
p.P80P
p.P103P
--Zhou2022 GE
ZC4H2     7-0248-003chrX:
64617594-64617594
CGintergenicDe novo--Yuen2017 G
ZC4H2     08C73163chrX:
64137745-64137745
CTexonicDe novononsynonymous SNVNM_001178033
NM_001178032
NM_001243804
NM_018684
c.G430A
c.G524A
c.G524A
c.G593A
p.G144R
p.R175Q
p.R175Q
p.R198Q
35.0-Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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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