Variant Results

or

or

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

MSSNG00039-003

chr8:
144600331-144600331

G

C

intronic

De novo

-

-

Trost2022 G

ZC3H3

3-0467-000

chr8:
144616834-144616834

C

T

intronic

De novo

-

-

Trost2022 G

ZC3H3

MSSNG00253-003

chr8:
144585965-144585965

T

C

intronic

De novo

-

-

Trost2022 G

ZC3H3

4-0062-003

chr8:
144590836-144590836

C

T

intronic

De novo

-

-

Trost2022 G

ZC3H3

5-1043-003

chr8:
144554320-144554320

G

C

intronic

De novo

-

-

Trost2022 G

ZC3H3

5-5022-003

chr8:
144579269-144579269

T

G

intronic

De novo

-

-

Trost2022 G

ZC3H3

MSSNG00245-003

chr8:
144532673-144532673

T

C

intronic

De novo

-

-

Trost2022 G

ZC3H3

MSSNG00133-003

chr8:
144548725-144548725

G

A

intronic

De novo

-

-

Trost2022 G

ZC3H3

SSC06853

chr8:
144550618-144550618

C

T

exonic

De novo

nonsynonymous SNV

NM_015117

c.G2039A

p.G680D

23.6

-

Fu2022 E
Trost2022 G

ZC3H3

SP0142526

chr8:
144624001-144624001

G

A

upstream

De novo

-

-

Trost2022 G

ZC3H3

1-0674-003

chr8:
144613982-144613982

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZC3H3

2-1131-003

chr8:
144617365-144617365

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZC3H3

SP0030741

chr8:
144623817-144623817

T

A

upstream

De novo

-

-

Trost2022 G

ZC3H3

SP0098944

chr8:
144623998-144623998

G

C

upstream

De novo

-

-

Trost2022 G

ZC3H3

3-0169-000

chr8:
144607611-144607611

C

G

intronic

De novo

-

-

Yuen2016 G

ZC3H3

1-0329-003

chr8:
144613483-144613483

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZC3H3

SJD_50

chr8:
144550669-144550669

C

T

exonic

Maternal

nonsynonymous SNV

NM_015117

c.G1988A

p.R663Q

9.08

Toma2013 E

ZC3H3

12922.p1

chr8:
144550618-144550618

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_015117

c.G2039A

p.G680D

23.6

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

ZC3H3

1-0215-006

chr8:
144630437-144630437

C

T

intergenic

De novo

-

-

Yuen2017 G

ZC3H3

3-0475-000

chr8:
144618555-144618555

C

T

exonic

nonsynonymous SNV

NM_015117

c.G1433A

p.R478Q

21.6

Zhou2022 GE

ZC3H3

2-1359-003

chr8:
144522477-144522477

G

A

exonic

De novo

nonsynonymous SNV

NM_015117

c.C2549T

p.T850I

10.32

-

Yuen2015 G
Yuen2017 G
Zhou2022 GE

ZC3H3

AU4188302

chr8:
144623329-144623329

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

Source Variant Information

, -

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 notes	View
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