Variant Results

or

Results for "ZNF462"

Variant Events: 14

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

ZNF462

68575

chr9:
109692806-109692806

C

A

exonic

De novo

nonsynonymous SNV

NM_021224

c.C5848A

p.P1950T

14.08

-

Fu2022 E
Trost2022 G

ZNF462

11445.p1

chr9:
109692806-109692806

C

A

exonic

De novo

nonsynonymous SNV

NM_021224

c.C5848A

p.P1950T

14.08

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ZNF462

C209603

chr9:
109691014-109691014

C

CT

exonic

De novo

frameshift insertion

NM_021224

c.4822dupT

p.V1607fs

-

Fu2022 E

ZNF462

1-0853-003

chr9:
109688262-109688265

TGAA

T

exonic

De novo

nonframeshift deletion

NM_021224

c.2070_2072del

p.690_691del

-

Trost2022 G
Zhou2022 GE

ZNF462

10C117868

chr9:
109697811-109697812

CG

C

exonic

De novo

frameshift deletion

NM_021224

c.6145delG

p.G2049fs

-

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

ZNF462

DEASD_1017_001

chr9:
109734477-109734477

A

G

exonic

De novo

nonsynonymous SNV

NM_021224

c.A6619G

p.R2207G

22.1

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZNF462

SP0133149

chr9:
109688997-109688997

C

T

exonic

De novo

nonsynonymous SNV

NM_021224

c.C2804T

p.P935L

19.78

8.237E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF462

SP0037691

chr9:
109697838-109697840

ACT

A

exonic

De novo

frameshift deletion

NM_021224

c.6172_6173del

p.L2058fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF462

SP0011335

chr9:
109686659-109686659

G

T

exonic

De novo

stopgain

NM_021224

c.G466T

p.E156X

36.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF462

SP0030755

chr9:
109771902-109771902

G

A

exonic

De novo

synonymous SNV

NM_021224

c.G7266A

p.A2422A

-

7.424E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF462

2-0145-004

chr9:
109697791-109697791

C

A

exonic

De novo

nonsynonymous SNV

NM_021224

c.C6124A

p.R2042S

24.6

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ZNF462

AU2218301

chr9:
109630291-109630291

T

G

intronic

De novo

-

Trost2022 G

ZNF462

21870-36159

chr9:
109691591-109691591

G

A

exonic

Inherited

nonsynonymous SNV

NM_021224

c.G5398A

p.A1800T

17.45

-

Callaghan2019 G

ZNF462

13842.p1

chr9:
109691619-109691619

C

T

exonic

De novo

nonsynonymous SNV

NM_021224

c.C5426T

p.A1809V

13.27

1.657E-5

Ji2016 E
Krumm2015 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

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
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