Variant Results

or

Results for "ZNF318"

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

ZNF318

AC02-1184-01

chr6:
43309923-43309923

C

A

exonic

De novo

nonsynonymous SNV

NM_014345

c.G3303T

p.W1101C

19.78

-

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

ZNF318

1-0285-003

chr6:
43367333-43367333

C

CTG

intergenic

De novo

-

Yuen2017 G

ZNF318

DEASD_0268_001

chr6:
43309995-43309995

C

CAAT

intronic

De novo

-

2.653E-5

Kosmicki2017 E

ZNF318

2-0102-004

chr6:
43331373-43331373

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF318

1-0451-003

chr6:
43305283-43305283

G

A

exonic

synonymous SNV

NM_014345

c.C6453T

p.L2151L

-

1.65E-5

Zhou2022 GE

ZNF318

09C79752

chr6:
43325079-43325079

G

A

exonic

De novo

stopgain

NM_014345

c.C973T

p.R325X

37.0

8.241E-6

Fu2022 E

ZNF318

10C109044

chr6:
43305283-43305283

G

A

exonic

De novo

synonymous SNV

NM_014345

c.C6453T

p.L2151L

-

1.65E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZNF318

7-0292-003A

chr6:
43337658-43337658

T

C

upstream

De novo

-

Trost2022 G

ZNF318

1-0203-003

chr6:
43305565-43305565

G

A

exonic

De novo

synonymous SNV

NM_014345

c.C6171T

p.S2057S

-

2.0E-4

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

ZNF318

2-0022-005

chr6:
43366931-43366931

G

A

intergenic

De novo

-

Yuen2017 G

ZNF318

9-0010-003

chr6:
43313880-43313880

C

T

intronic

De novo

-

Trost2022 G

ZNF318

Wang2023:447

chr6:
43308178-43308178

C

CA

exonic

De novo

frameshift insertion

NM_014345

c.3557dupT

p.L1186fs

-

Wang2023 E

ZNF318

MSSNG00256-005

chr6:
43336931-43336931

C

G

exonic

De novo

nonsynonymous SNV

NM_014345

c.G173C

p.R58P

12.95

-

Trost2022 G

ZNF318

SP0219706

chr6:
43308109-43308110

CT

C

exonic

De novo

frameshift deletion

NM_014345

c.3626delA

p.K1209fs

-

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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