Variant Results

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Results for "ZNF16"

Variant Events: 11

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

ZNF16

SP0025453

chr8:
146157692-146157692

G

A

exonic

De novo

nonsynonymous SNV

NM_006958
NM_001029976

c.C481T
c.C481T

p.R161C
p.R161C

5.711

Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF16

2-1116-003

chr8:
146172720-146172720

C

T

intronic

De novo

-

-

Trost2022 G

ZNF16

MSSNG00391-003

chr8:
146169851-146169851

T

C

intronic

De novo

-

-

Trost2022 G

ZNF16

mAGRE4873

chr8:
146157095-146157095

G

A

exonic

Paternal

stopgain

NM_006958
NM_001029976

c.C1078T
c.C1078T

p.R360X
p.R360X

35.0

Cirnigliaro2023 G

ZNF16

4-0108-003

chr8:
146171967-146171967

C

A

intronic

De novo

-

-

Trost2022 G

ZNF16

AU3154302

chr8:
146156871-146156871

C

CT

exonic

Maternal

frameshift insertion

NM_006958
NM_001029976

c.1301dupA
c.1301dupA

p.K434fs
p.K434fs

-

Cirnigliaro2023 G

ZNF16

2-1297-004

chr8:
146156988-146156988

G

A

exonic

De novo

synonymous SNV

NM_006958
NM_001029976

c.C1185T
c.C1185T

p.H395H
p.H395H

-

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ZNF16

DEASD_0207_001

chr8:
146156843-146156843

G

A

exonic

stopgain

NM_006958
NM_001029976

c.C1330T
c.C1330T

p.Q444X
p.Q444X

28.8

-

Doan2019 E

ZNF16

iHART3087

chr8:
146156871-146156871

C

CT

exonic

Maternal

frameshift insertion

NM_006958
NM_001029976

c.1301dupA
c.1301dupA

p.K434fs
p.K434fs

-

Ruzzo2019 G

ZNF16

Cukier2014:37994

chr8:
146157104-146157104

C

G

exonic

Unknown

nonsynonymous SNV

NM_006958
NM_001029976

c.G1069C
c.G1069C

p.A357P
p.A357P

13.0

Cukier2014 E

ZNF16

AU060004

chr8:
146187919-146187919

G

T

intergenic

De novo

-

-

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
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