Variant Results

or

Results for "ZNF638"

Variant Events: 29

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

ZNF638

1-0119-004

chr2:
71605679-71605679

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF638

SP0079569

chr2:
71591264-71591264

C

G

exonic

De novo

stopgain

NM_001014972
NM_001252612
NM_001252613
NM_014497

c.C1599G
c.C1599G
c.C1599G
c.C1599G

p.Y533X
p.Y533X
p.Y533X
p.Y533X

38.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF638

2-1154-003

chr2:
71563957-71563957

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF638

AU3889305

chr2:
71663549-71663552

CCTT

C

intergenic

De novo

-

Yuen2017 G

ZNF638

PN400379

chr2:
71633307-71633307

C

T

exonic

Unknown

nonsynonymous SNV

NM_001014972
NM_001252612
NM_001252613
NM_014497

c.C3050T
c.C3050T
c.C3050T
c.C3050T

p.P1017L
p.P1017L
p.P1017L
p.P1017L

23.8

3.296E-5

Leblond2019 E

ZNF638

SP0087570

chr2:
71591190-71591190

C

T

exonic

De novo

stopgain

NM_001014972
NM_001252612
NM_001252613
NM_014497

c.C1525T
c.C1525T
c.C1525T
c.C1525T

p.R509X
p.R509X
p.R509X
p.R509X

39.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF638

SP0036530

chr2:
71627572-71627572

A

C

intronic

De novo

-

Fu2022 E

ZNF638

SP0026996

chr2:
71591402-71591402

A

G

intronic

De novo

-

Fu2022 E
Trost2022 G

ZNF638

1-0201-005

chr2:
71647666-71647666

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF638

74-0672

chr2:
71650660-71650660

A

T

exonic

Inherited

nonsynonymous SNV

NM_001014972
NM_001252612
NM_001252613
NM_014497

c.A4016T
c.A4016T
c.A4016T
c.A4016T

p.D1339V
p.D1339V
p.D1339V
p.D1339V

0.055

1.679E-5

Patowary2019 E

ZNF638

1-0271-003

chr2:
71564885-71564889

AATAT

TCCACC

intronic

De novo

-

Trost2022 G

ZNF638

2-1066-004

chr2:
71564885-71564889

AATAT

TCCACC

intronic

De novo

-

Trost2022 G

ZNF638

2-1339-003

chr2:
71564885-71564888

AATA

TCCACCTGTC

intronic

De novo

-

Trost2022 G

ZNF638

5-0014-004

chr2:
71564885-71564889

AATAT

TCCACC

intronic

De novo

-

Trost2022 G

ZNF638

MSSNG00257-003

chr2:
71558676-71558676

A

T

upstream

De novo

-

Trost2022 G

ZNF638

MSSNG00101-004

chr2:
71650678-71650678

A

C

exonic

De novo

nonsynonymous SNV

NM_001014972
NM_001252612
NM_001252613
NM_014497

c.A4034C
c.A4034C
c.A4034C
c.A4034C

p.K1345T
p.K1345T
p.K1345T
p.K1345T

14.35

-

Trost2022 G

ZNF638

10C102294

chr2:
71635358-71635358

C

G

exonic

De novo

nonsynonymous SNV

NM_001014972
NM_001252612
NM_001252613
NM_014497

c.C3242G
c.C3242G
c.C3242G
c.C3242G

p.P1081R
p.P1081R
p.P1081R
p.P1081R

13.19

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZNF638

1-0483-004

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

ZNF638

DEASD_0396_001

chr2:
71649966-71649966

A

G

exonic

De novo

nonsynonymous SNV

NM_001014972
NM_001252612
NM_001252613
NM_014497

c.A3322G
c.A3322G
c.A3322G
c.A3322G

p.I1108V
p.I1108V
p.I1108V
p.I1108V

0.787

0.0068

DeRubeis2014 E
Kosmicki2017 E

ZNF638

MSSNG00109-005

chr2:
71627572-71627572

A

C

intronic

De novo

-

Trost2022 G

ZNF638

REACH000141

chr2:
71648802-71648802

T

G

intronic

De novo

-

Trost2022 G

ZNF638

5-0009-003

chr2:
71595965-71595965

G

A

intronic

De novo

-

Trost2022 G

ZNF638

7-0457-003

chr2:
71614839-71614839

A

T

intronic

De novo

-

Trost2022 G

ZNF638

2-0310-004

chr2:
71564885-71564889

AATAT

TCCACC

intronic

De novo

-

Trost2022 G

ZNF638

7-0292-004A

chr2:
71579329-71579329

G

A

intronic

De novo

-

Trost2022 G

ZNF638

AU1988302

chr2:
71621569-71621569

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF638

2-1129-003

chr2:
71661662-71661662

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ZNF638

22044.p1

chr2:
71653628-71653628

T

C

exonic

synonymous SNV

NM_001014972
NM_001252612
NM_001252613
NM_014497

c.T4629C
c.T4629C
c.T4629C
c.T4629C

p.T1543T
p.T1543T
p.T1543T
p.T1543T

9.033

-

Zhou2022 GE

ZNF638

AU3713301

chr2:
71594687-71594687

A

T

intronic

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
Curation notes	View
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