Variant Results

or

Results for "PLXNA2"

Variant Events: 71

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

PLXNA2

AU4154303

chr1:
209309633-209309633

G

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

2-1182-003

chr1:
209505745-209505745

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PLXNA2

AU3713302

chr1:
208660925-208660925

C

T

intergenic

De novo

-

Yuen2017 G

PLXNA2

2-1173-003

chr1:
208240910-208240910

C

T

intronic

De novo

-

Yuen2017 G

PLXNA2

AU4444304

chr1:
208656663-208656663

A

G

intergenic

De novo

-

Yuen2017 G

PLXNA2

1-0551-003

chr1:
208449106-208449106

G

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

1-0104-003

chr1:
209037553-209037553

G

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

AU2569303

chr1:
208577463-208577463

G

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

SP0027605

chr1:
208201505-208201505

C

A

splicing

De novo

splicing

23.0

-

Feliciano2019 E
Fu2022 E

PLXNA2

SSC11608

chr1:
208391105-208391105

C

T

exonic

De novo

nonsynonymous SNV

NM_025179

c.G163A

p.V55I

15.55

-

Fu2022 E

PLXNA2

14356.p1

chr1:
208391105-208391105

C

T

exonic

De novo

nonsynonymous SNV

NM_025179

c.G163A

p.V55I

15.55

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

PLXNA2

5-0025-003

chr1:
209115324-209115324

G

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

200675486_1082035020

chr1:
208215447-208215447

G

A

exonic

De novo

nonsynonymous SNV

NM_025179

c.C4282T

p.R1428W

25.1

-

Fu2022 E

PLXNA2

AU2569303

chr1:
208508005-208508005

A

C

intergenic

De novo

-

Yuen2017 G

PLXNA2

AU2592303

chr1:
208257896-208257896

C

T

exonic

De novo

synonymous SNV

NM_025179

c.G2127A

p.E709E

-

Fu2022 E

PLXNA2

1-0417-003

chr1:
209018053-209018053

G

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

200675486@1082035020

chr1:
208215447-208215447

G

A

exonic

De novo

nonsynonymous SNV

NM_025179

c.C4282T

p.R1428W

25.1

-

Satterstrom2020 E

PLXNA2

2-1341-004

chr1:
208669231-208669231

G

C

intergenic

De novo

-

Yuen2017 G

PLXNA2

5-0131-003

chr1:
209284409-209284409

G

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

1-0585-003

chr1:
209312806-209312806

C

T

intergenic

De novo

-

Yuen2017 G

PLXNA2

AU056604

chr1:
208307733-208307733

G

A

intronic

De novo

-

Yuen2017 G

PLXNA2

AU3637301

chr1:
208589825-208589825

C

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

AU3790301

chr1:
208288686-208288686

C

T

intronic

De novo

-

Yuen2017 G

PLXNA2

1-0555-003

chr1:
209517622-209517622

G

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

2-1066-003

chr1:
208835879-208835879

C

T

intergenic

De novo

-

Yuen2017 G

PLXNA2

2-1116-003

chr1:
208431041-208431044

TGTG

T

intergenic

De novo

-

Yuen2017 G

PLXNA2

2-1427-003

chr1:
209232273-209232273

T

G

intergenic

De novo

-

Yuen2017 G

PLXNA2

AU3903301

chr1:
209068345-209068345

T

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

1-0051-005

chr1:
209483813-209483813

A

C

intergenic

De novo

-

Yuen2017 G

PLXNA2

2-1322-003

chr1:
209567733-209567733

C

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

1-0446-003

chr1:
208429494-208429494

T

C

intergenic

De novo

-

Yuen2017 G

PLXNA2

2-1168-003

chr1:
209378916-209378916

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PLXNA2

1-0868-003

chr1:
208819430-208819430

A

G

intergenic

De novo

-

Yuen2017 G

PLXNA2

5-0077-004

chr1:
209055037-209055037

G

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

1-0126-004

chr1:
208503208-208503208

G

GTA

intergenic

De novo

-

Yuen2017 G

PLXNA2

AU3122301

chr1:
208429982-208429982

C

T

intergenic

De novo

-

Yuen2017 G

PLXNA2

2-1297-004

chr1:
208558004-208558004

T

C

intergenic

De novo

-

Yuen2017 G

PLXNA2

1-0553-003

chr1:
209031267-209031267

A

C

intergenic

De novo

-

Yuen2017 G

PLXNA2

2-0323-003

chr1:
208346901-208346901

T

A

intronic

De novo

-

Yuen2017 G

PLXNA2

2-1194-003

chr1:
209382853-209382853

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PLXNA2

7-0080-003

chr1:
208818407-208818407

G

C

intergenic

De novo

-

Yuen2017 G

PLXNA2

1408001

chr1:
208215566-208215566

G

A

exonic

De novo

nonsynonymous SNV

NM_025179

c.C4163T

p.S1388L

36.0

-

Fu2022 E
Satterstrom2020 E

PLXNA2

7-0168-003

chr1:
209491988-209491988

T

C

intergenic

De novo

-

Yuen2017 G

PLXNA2

1-0772-003

chr1:
208847798-208847798

T

G

intergenic

De novo

-

Yuen2017 G

PLXNA2

A8

chr1:
208620418-208620418

G

C

intergenic

De novo

-

Wu2018 G

PLXNA2

AU4235303

chr1:
209054312-209054312

A

G

intergenic

De novo

-

Yuen2017 G

PLXNA2

1-0158-003

chr1:
209328162-209328162

C

T

intergenic

De novo

-

Yuen2017 G

PLXNA2

1-0485-003

chr1:
209330690-209330690

T

C

intergenic

De novo

-

Yuen2017 G

PLXNA2

AU3885305

chr1:
208797773-208797773

G

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

AU3906301

chr1:
208332377-208332377

T

C

intronic

De novo

-

Yuen2017 G

PLXNA2

5-0033-004

chr1:
208360817-208360817

C

T

intronic

De novo

-

Yuen2017 G

PLXNA2

2-1477-003

chr1:
208333250-208333250

C

T

intronic

De novo

-

Yuen2016 G

PLXNA2

3-0169-000

chr1:
208242756-208242756

G

T

intronic

De novo

-

Yuen2016 G

PLXNA2

1-0906-003

chr1:
209312015-209312015

T

C

intergenic

De novo

-

Yuen2017 G

PLXNA2

7-0102-003

chr1:
208444245-208444245

G

T

intergenic

De novo

-

Yuen2017 G

PLXNA2

2-1382-003

chr1:
208559866-208559866

G

A

intergenic

De novo

-

Yuen2016 G

PLXNA2

AU072004

chr1:
208599381-208599381

T

C

intergenic

De novo

-

Yuen2017 G

PLXNA2

2-1138-003

chr1:
208925867-208925868

AG

AGGG

intergenic

De novo

-

Yuen2017 G

PLXNA2

AU3857301

chr1:
208490514-208490517

AATA

AATATA

intergenic

De novo

-

Yuen2017 G

PLXNA2

AU2787301

chr1:
208810099-208810099

G

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

SP0028555

chr1:
208390973-208390973

T

G

exonic

De novo

nonsynonymous SNV

NM_025179

c.A295C

p.I99L

10.19

1.647E-5

Fu2022 E

PLXNA2

SP0112671

chr1:
208390748-208390748

G

A

exonic

De novo

nonsynonymous SNV

NM_025179

c.C520T

p.R174C

14.98

1.0E-4

Fu2022 E

PLXNA2

AU4365302

chr1:
208537052-208537052

C

T

intergenic

De novo

-

Yuen2017 G

PLXNA2

SP0028445

chr1:
208216319-208216319

C

T

intronic

De novo

-

Fu2022 E

PLXNA2

GM182936

chr1:
208383559-208383559

T

A

intronic

De novo

-

Fu2022 E

PLXNA2

1-0259-003

chr1:
208432691-208432691

G

A

intergenic

De novo

-

Yuen2017 G

PLXNA2

1-0045-003

chr1:
209170583-209170583

A

G

intergenic

De novo

-

Yuen2017 G

PLXNA2

AU3907302

chr1:
208366695-208366695

G

A

intronic

De novo

-

Yuen2017 G

PLXNA2

2-0310-004

chr1:
208303471-208303471

G

C

intronic

De novo

-

Yuen2017 G

PLXNA2

2-1163-003

chr1:
208440630-208440630

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PLXNA2

13037.p1

chr1:
209059183-209059183

T

G

intergenic

De novo

-

Wilfert2021 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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