Variant Results

or

Results for "ZFC3H1"

Variant Events: 16

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

ZFC3H1

2-0158-003

chr12:
72005578-72005578

G

A

exonic

De novo

nonsynonymous SNV

NM_144982

c.C5717T

p.A1906V

31.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ZFC3H1

SP0137463

chr12:
72027098-72027098

T

C

exonic

synonymous SNV

NM_144982

c.A2631G

p.A877A

-

Zhou2022 GE

ZFC3H1

7-0249-004

chr12:
72030430-72030430

G

C

exonic

De novo

nonsynonymous SNV

NM_144982

c.C1940G

p.T647R

13.33

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ZFC3H1

NDAR_INVRT684RNC_wes1

chr12:
72038139-72038139

G

A

intronic

De novo

-

8.036E-5

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

ZFC3H1

08C76035

chr12:
72030350-72030350

T

C

exonic

De novo

nonsynonymous SNV

NM_144982

c.A2020G

p.S674G

21.3

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZFC3H1

SP0078088

chr12:
72050635-72050635

A

C

intronic

De novo

-

3.591E-5

Trost2022 G

ZFC3H1

AU046506

chr12:
72055652-72055652

G

A

intronic

De novo

-

Trost2022 G

ZFC3H1

SP0137462

chr12:
72027098-72027098

T

C

exonic

De novo

synonymous SNV

NM_144982

c.A2631G

p.A877A

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZFC3H1

AU2442301

chr12:
72024872-72024872

C

A

intronic

De novo

-

Trost2022 G

ZFC3H1

2-1294-004

chr12:
72040106-72040106

T

G

intronic

De novo

-

Trost2022 G

ZFC3H1

SP0069884

chr12:
72025650-72025651

CA

C

exonic

De novo

frameshift deletion

NM_144982

c.3377delT

p.V1126fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

ZFC3H1

13352.p1

chr12:
72017249-72017249

T

C

exonic

De novo

synonymous SNV

NM_144982

c.A4635G

p.P1545P

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ZFC3H1

09C98906

chr12:
72004328-72004328

T

C

exonic

De novo

synonymous SNV

NM_144982

c.A5850G

p.A1950A

-

8.325E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZFC3H1

Lim2017:70326

chr12:
72017249-72017249

T

C

exonic

De novo

synonymous SNV

NM_144982

c.A4635G

p.P1545P

-

Lim2017 E

ZFC3H1

SP0040514

chr12:
72004974-72004974

A

C

intronic

De novo

-

Fu2022 E

ZFC3H1

70326

chr12:
72017249-72017249

T

C

exonic

De novo

synonymous SNV

NM_144982

c.A4635G

p.P1545P

-

Fu2022 E
Trost2022 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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