Variant Results

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Results for "ZNF76"

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

ZNF76

iHART1876

chr6:
35261585-35261585

C

T

exonic

Paternal

stopgain

NM_003427

c.C1387T

p.Q463X

40.0

-

Ruzzo2019 G

ZNF76

2-0158-003

chr6:
35245790-35245790

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZNF76

iHART2001

chr6:
35255421-35255421

A

C

splicing

Maternal

splicing

12.37

Ruzzo2019 G

ZNF76

mAGRE2001

chr6:
35255421-35255421

A

C

splicing

Maternal

splicing

12.37

Cirnigliaro2023 G

ZNF76

SP0036869

chr6:
35255518-35255518

A

G

exonic

De novo

nonsynonymous SNV

NM_001292032
NM_003427

c.A328G
c.A328G

p.I110V
p.I110V

9.789

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF76

iHART1875

chr6:
35261585-35261585

C

T

exonic

Paternal

stopgain

NM_003427

c.C1387T

p.Q463X

40.0

-

Ruzzo2019 G

ZNF76

SSC06938

chr6:
35259344-35259344

C

T

exonic

De novo

nonsynonymous SNV

NM_001292032
NM_003427

c.C761T
c.C761T

p.P254L
p.P254L

27.0

Fu2022 E

ZNF76

13195.p1

chr6:
35259344-35259344

C

T

exonic

De novo

nonsynonymous SNV

NM_001292032
NM_003427

c.C761T
c.C761T

p.P254L
p.P254L

27.0

Ji2016 E
Krumm2015 E
Zhou2022 GE

ZNF76

SP0082921

chr6:
35258029-35258029

G

A

intronic

De novo

-

-

Fu2022 E
Trost2022 G

ZNF76

mAGRE1876

chr6:
35261585-35261585

C

T

exonic

Paternal

stopgain

NM_003427

c.C1387T

p.Q463X

40.0

-

Cirnigliaro2023 G

ZNF76

mAGRE1875

chr6:
35261585-35261585

C

T

exonic

Paternal

stopgain

NM_003427

c.C1387T

p.Q463X

40.0

-

Cirnigliaro2023 G

ZNF76

SP0185792

chr6:
35261710-35261710

G

T

intronic

De novo

-

-

Trost2022 G

ZNF76

AU194A

chr6:
35259464-35259464

G

A

exonic

De novo

nonsynonymous SNV

NM_001292032
NM_003427

c.G881A
c.G881A

p.R294H
p.R294H

35.0

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

ZNF76

2-1433-003

chr6:
35247905-35247905

G

A

intronic

De novo

-

-

Trost2022 G

ZNF76

4-0062-003

chr6:
35261244-35261245

CT

TC

intronic

De novo

-

-

Trost2022 G

ZNF76

3-0728-000

chr6:
35239687-35239687

T

C

intronic

De novo

-

-

Trost2022 G

ZNF76

MSSNG00255-004

chr6:
35245675-35245675

C

T

intronic

De novo

-

-

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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