Variant Results

or

Results for "ZSWIM2"

Variant Events: 40

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

ZSWIM2

AU3730301

chr2:
187830924-187830924

T

C

intergenic

De novo

-

Yuen2017 G

ZSWIM2

AU3779304

chr2:
188035651-188035651

C

T

intergenic

De novo

-

Yuen2017 G

ZSWIM2

2-0286-003

chr2:
187860902-187860902

T

G

intergenic

De novo

-

Yuen2017 G

ZSWIM2

2-1386-003

chr2:
187986147-187986147

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZSWIM2

AU3951302

chr2:
187714521-187714522

CT

CTGTGTGT

upstream

De novo

-

Yuen2017 G

ZSWIM2

1-0452-003

chr2:
188118427-188118431

TAAAC

T

intergenic

De novo

-

Yuen2016 G

ZSWIM2

iHART2505

chr2:
187694505-187694506

CA

C

exonic

Paternal

stopgain

NM_182521

c.1043delT

p.L348X

-

2.474E-5

Ruzzo2019 G

ZSWIM2

2-0503-003

chr2:
187934553-187934553

A

C

intergenic

De novo

-

Yuen2017 G

ZSWIM2

2-0011-004

chr2:
188201073-188201073

T

G

intergenic

De novo

-

Yuen2017 G

ZSWIM2

12778.p1

chr2:
187998481-187998483

TAG

T

intergenic

De novo

-

Werling2018 G

ZSWIM2

iHART2991

chr2:
187702067-187702068

AG

A

exonic

Paternal

frameshift deletion

NM_182521

c.708delC

p.N236fs

-

Ruzzo2019 G

ZSWIM2

AU3721301

chr2:
188126678-188126678

A

T

intergenic

De novo

-

Yuen2017 G

ZSWIM2

1-0498-003

chr2:
187805717-187805717

T

C

intergenic

De novo

-

Yuen2017 G

ZSWIM2

A26

chr2:
187939080-187939080

A

T

intergenic

De novo

-

Wu2018 G

ZSWIM2

1-0357-003

chr2:
187784746-187784746

G

A

intergenic

De novo

-

Yuen2017 G

ZSWIM2

SP0090223

chr2:
187709416-187709416

C

A

intronic

De novo

-

8.0E-4

Trost2022 G

ZSWIM2

AU2427303

chr2:
188042263-188042263

G

A

intergenic

De novo

-

Yuen2017 G

ZSWIM2

1-0566-003

chr2:
188027565-188027565

G

T

intergenic

De novo

-

Yuen2017 G

ZSWIM2

AU4306302

chr2:
187787167-187787167

C

G

intergenic

De novo

-

Yuen2017 G

ZSWIM2

1-0566-003

chr2:
188027465-188027465

C

T

intergenic

De novo

-

Yuen2017 G

ZSWIM2

AU4273304

chr2:
188043038-188043038

A

G

intergenic

De novo

-

Yuen2017 G

ZSWIM2

SSC10390

chr2:
187694548-187694548

T

C

exonic

De novo

nonsynonymous SNV

NM_182521

c.A1001G

p.N334S

9.779

-

Fu2022 E
Lim2017 E
Trost2022 G

ZSWIM2

1-0024-003

chr2:
187991480-187991480

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZSWIM2

AU2756306

chr2:
187702067-187702068

AG

A

exonic

Paternal

frameshift deletion

NM_182521

c.708delC

p.N236fs

-

Cirnigliaro2023 G

ZSWIM2

mAGRE2505

chr2:
187694505-187694506

CA

C

exonic

Paternal

stopgain

NM_182521

c.1043delT

p.L348X

-

2.474E-5

Cirnigliaro2023 G

ZSWIM2

mAGRE4873

chr2:
187693359-187693375

CTTTGATAGATGAATGA

C

exonic

Paternal

frameshift deletion

NM_182521

c.1238_1253del

p.I413fs

-

2.0E-4

Cirnigliaro2023 G

ZSWIM2

mAGRE4872

chr2:
187693359-187693375

CTTTGATAGATGAATGA

C

exonic

Paternal

frameshift deletion

NM_182521

c.1238_1253del

p.I413fs

-

2.0E-4

Cirnigliaro2023 G

ZSWIM2

14065.p1

chr2:
187694548-187694548

T

C

exonic

De novo

nonsynonymous SNV

NM_182521

c.A1001G

p.N334S

9.779

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

ZSWIM2

1-0158-003

chr2:
188134274-188134274

A

C

intergenic

De novo

-

Yuen2017 G

ZSWIM2

AU1635302

chr2:
187739221-187739221

C

T

intergenic

De novo

-

Yuen2017 G

ZSWIM2

1-0272-003

chr2:
187847668-187847668

C

A

intergenic

De novo

-

Yuen2017 G

ZSWIM2

2-1315-003

chr2:
187822269-187822269

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZSWIM2

2-0503-004

chr2:
187934553-187934553

A

C

intergenic

De novo

-

Yuen2017 G

ZSWIM2

SP0060858

chr2:
187693167-187693167

T

A

exonic

De novo

nonsynonymous SNV

NM_182521

c.A1446T

p.K482N

3.805

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZSWIM2

AU3175303

chr2:
188163018-188163018

G

C

intergenic

De novo

-

Yuen2017 G

ZSWIM2

3-0469-000

chr2:
188081470-188081471

CA

C

intergenic

De novo

-

Yuen2017 G

ZSWIM2

AU4032305

chr2:
187721936-187721936

G

A

intergenic

De novo

-

Yuen2017 G

ZSWIM2

1-0196-005

chr2:
188181117-188181117

G

A

intergenic

De novo

-

Yuen2017 G

ZSWIM2

GEA364

chr2:
187692908-187692908

T

A

exonic

De novo

stopgain

NM_182521

c.A1705T

p.R569X

14.35

-

Fu2022 E

ZSWIM2

1-0252-003

chr2:
188123928-188123928

C

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
Curation notes	View
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