Variant Results

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or

Results for "ZNF592"

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

ZNF592

PN400179

chr15:
85342065-85342065

C

T

exonic

Unknown

nonsynonymous SNV

NM_014630

c.C2983T

p.R995W

18.05

Leblond2019 E

ZNF592

PN400352

chr15:
85342065-85342065

C

T

exonic

Unknown

nonsynonymous SNV

NM_014630

c.C2983T

p.R995W

18.05

Leblond2019 E

ZNF592

4-0017-003

chr15:
85336759-85336759

G

A

intronic

De novo

-

-

Trost2022 G

ZNF592

PN400412

chr15:
85342065-85342065

C

T

exonic

Unknown

nonsynonymous SNV

NM_014630

c.C2983T

p.R995W

18.05

Leblond2019 E

ZNF592

PN400523

chr15:
85342065-85342065

C

T

exonic

Unknown

nonsynonymous SNV

NM_014630

c.C2983T

p.R995W

18.05

Leblond2019 E

ZNF592

AU063005

chr15:
85305253-85305253

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZNF592

AU2000305

chr15:
85338125-85338125

T

A

intronic

De novo

-

-

Yuen2017 G

ZNF592

AU1795302

chr15:
85329771-85329771

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZNF592

13850.p1

chr15:
85342477-85342477

G

A

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

ZNF592

2-0145-004

chr15:
85296437-85296437

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZNF592

2-0145-004

chr15:
85295145-85295145

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZNF592

2-1581-003

chr15:
85336527-85336527

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZNF592

SP0126288

chr15:
85345080-85345080

G

C

intronic

De novo

-

-

Fu2022 E
Trost2022 G

ZNF592

SP0017692

Complex Event; expand row to view variants

De novo

nonsynonymous SNV

NM_014630
NM_014630

c.G571T
c.G571A

p.V191F
p.V191I

10.51

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF592

PN400241

chr15:
85327103-85327103

T

G

exonic

De novo

nonsynonymous SNV

NM_014630

c.T1197G

p.D399E

13.75

Leblond2019 E

ZNF592

PN400455

chr15:
85342065-85342065

C

T

exonic

Unknown

nonsynonymous SNV

NM_014630

c.C2983T

p.R995W

18.05

Leblond2019 E

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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