Variant Results

or

Results for "PLXNB1"

Variant Events: 27

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

PLXNB1

12689.p1

chr3:
48457121-48457121

C

A

exonic

De novo

nonsynonymous SNV

NM_001130082
NM_002673

c.G3665T
c.G3665T

p.R1222L
p.R1222L

8.546

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Wilfert2021 G
Zhou2022 GE

PLXNB1

217-14242-3660

chr3:
48456749-48456749

G

A

exonic

Unknown

nonsynonymous SNV

NM_001130082
NM_002673

c.C3802T
c.C3802T

p.R1268C
p.R1268C

22.9

-

Stessman2017 T

PLXNB1

Stessman2017:ASD_1500

chr3:
48447196-48447196

C

T

exonic

Unknown

nonsynonymous SNV

NM_001130082
NM_002673

c.G6238A
c.G6238A

p.G2080R
p.G2080R

14.22

1.0E-4

Stessman2017 T

PLXNB1

09C85376

chr3:
48465927-48465927

C

T

exonic

De novo

nonsynonymous SNV

NM_001130082
NM_002673

c.G94A
c.G94A

p.G32S
p.G32S

9.942

-

Fu2022 E

PLXNB1

SSC05224

chr3:
48457121-48457121

C

A

exonic

De novo

nonsynonymous SNV

NM_001130082
NM_002673

c.G3665T
c.G3665T

p.R1222L
p.R1222L

8.546

-

Lim2017 E

PLXNB1

mAGRE6030

chr3:
48460325-48460325

C

T

splicing

Maternal

splicing

18.46

-

Cirnigliaro2023 G

PLXNB1

mAGRE6029

chr3:
48460325-48460325

C

T

splicing

Maternal

splicing

18.46

-

Cirnigliaro2023 G

PLXNB1

09C97129

chr3:
48455355-48455356

CA

C

exonic

De novo

frameshift deletion

NM_001130082
NM_002673

c.4334delT
c.4334delT

p.L1445fs
p.L1445fs

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Willsey2013 E
Zhou2022 GE

PLXNB1

217-14371-4840

chr3:
48459731-48459731

G

A

exonic

De novo

nonsynonymous SNV

NM_001130082
NM_002673

c.C3091T
c.C3091T

p.R1031C
p.R1031C

31.0

2.0E-4

Stessman2017 T

PLXNB1

E9R8H

chr3:
48460711-48460711

A

C

exonic

Inherited

nonsynonymous SNV

NM_001130082
NM_002673

c.T2774G
c.T2774G

p.M925R
p.M925R

13.21

9.34E-6

Stessman2017 T

PLXNB1

mAGRE5216

chr3:
48453714-48453714

C

T

splicing

Paternal

splicing

18.77

-

Cirnigliaro2023 G

PLXNB1

05C38979

chr3:
48455336-48455336

G

A

exonic

De novo

stopgain

NM_001130082
NM_002673

c.C4354T
c.C4354T

p.R1452X
p.R1452X

44.0

-

Stessman2017 T
Stessman2017 T

PLXNB1

F8V5Y

chr3:
48454004-48454004

C

T

exonic

Unknown

nonsynonymous SNV

NM_001130082
NM_002673

c.G4880A
c.G4880A

p.R1627H
p.R1627H

25.8

8.314E-6

Stessman2017 T

PLXNB1

SSC05224

chr3:
48464316-48464316

G

A

exonic

De novo

nonsynonymous SNV

NM_001130082
NM_002673

c.C1148T
c.C1148T

p.P383L
p.P383L

24.8

-

Fu2022 E
Lim2017 E
Trost2022 G

PLXNB1

12689.p1

chr3:
48464316-48464316

G

A

exonic

De novo

nonsynonymous SNV

NM_001130082
NM_002673

c.C1148T
c.C1148T

p.P383L
p.P383L

24.8

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

PLXNB1

2-0309-005

chr3:
48471086-48471086

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLXNB1

SP0050576

chr3:
48457522-48457522

G

A

exonic

De novo

nonsynonymous SNV

NM_001130082
NM_002673

c.C3535T
c.C3535T

p.R1179C
p.R1179C

8.245

1.696E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

PLXNB1

SP0005107

chr3:
48457639-48457644

GAGAGA

G

intronic

De novo

-

Fu2022 E

PLXNB1

7-0405-004

chr3:
48469602-48469602

C

G

intronic

De novo

-

Trost2022 G

PLXNB1

SP0024792

chr3:
48457498-48457498

G

A

exonic

De novo

nonsynonymous SNV

NM_001130082
NM_002673

c.C3559T
c.C3559T

p.L1187F
p.L1187F

25.5

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PLXNB1

2-1086-004

chr3:
48465476-48465478

GGA

TGTG

exonic

De novo

frameshift substitution

NM_001130082
NM_002673

c.543_545CACA
c.543_545CACA

N/A
N/A

-

Trost2022 G

PLXNB1

1-1134-004

chr3:
48466432-48466432

T

C

intronic

De novo

-

Trost2022 G

PLXNB1

2-0142-003

chr3:
48465476-48465478

GGA

TGTG

exonic

De novo

frameshift substitution

NM_001130082
NM_002673

c.543_545CACA
c.543_545CACA

N/A
N/A

-

Trost2022 G

PLXNB1

220-9802-203

chr3:
48464209-48464209

C

T

exonic

Unknown

nonsynonymous SNV

NM_001130082
NM_002673

c.G1255A
c.G1255A

p.A419T
p.A419T

26.0

2.479E-5

Stessman2017 T

PLXNB1

EL019_202

chr3:
48464362-48464362

G

A

intronic

De novo

-

Fu2022 E

PLXNB1

60-1057

chr3:
48456740-48456740

A

C

exonic

Inherited

nonsynonymous SNV

NM_001130082
NM_002673

c.T3811G
c.T3811G

p.C1271G
p.C1271G

8.711

1.0E-4

Patowary2019 E

PLXNB1

SP0015237

chr3:
48457639-48457644

GAGAGA

G

intronic

De novo

-

Fu2022 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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