Variant Results

or

or

Results for "PLXNB2"

Variant Events: 17

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

PLXNB2

AU2792302

chr22:
50734270-50734270

C

T

intronic

De novo

-

-

Yuen2017 G

PLXNB2

14162.p1

chr22:
50727283-50727283

A

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_012401

c.T1269G

p.D423E

0.17

-

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

PLXNB2

2-1620-004

chr22:
50719773-50719773

C

T

intronic

De novo

-

Yuen2017 G

PLXNB2

1-0162-004

chr22:
50732629-50732629

T

TAC

intronic

De novo

-

-

Yuen2017 G

PLXNB2

TRE_2526

chr22:
50721590-50721590

G

A

exonic

De novo

nonsynonymous SNV

NM_012401

c.C2705T

p.P902L

15.53

Fu2022 E

PLXNB2

04C31969

chr22:
50719779-50719779

G

A

intronic

De novo

-

-

Satterstrom2020 E

PLXNB2

Yin2020:110

chr22:
50728272-50728272

G

A

exonic

nonsynonymous SNV

NM_012401

c.C742T

p.R248C

20.8

Yin2020 T

PLXNB2

14162_p1

chr22:
50727283-50727283

A

C

exonic

De novo

nonsynonymous SNV

NM_012401

c.T1269G

p.D423E

0.17

-

Fu2022 E

PLXNB2

Yin2020:086

chr22:
50728272-50728272

G

A

exonic

nonsynonymous SNV

NM_012401

c.C742T

p.R248C

20.8

Yin2020 T

PLXNB2

ASC_11208-1

chr22:
50727972-50727972

C

T

exonic

De novo

nonsynonymous SNV

NM_012401

c.G1042A

p.D348N

5.788

-

Fu2022 E

PLXNB2

SP0018656

chr22:
50725509-50725509

G

T

intronic

De novo

-

-

Fu2022 E

PLXNB2

SP0051287

chr22:
50722946-50722946

A

C

intronic

De novo

-

-

Fu2022 E

PLXNB2

SP0092411

chr22:
50722274-50722274

G

A

exonic

De novo

synonymous SNV

NM_012401

c.C2409T

p.P803P

-

Fu2022 E

PLXNB2

12894.p1

Complex Event; expand row to view variants

De novo

nonframeshift deletion

NM_012401
NM_012401

c.2928_2930del
c.2929_2931del

p.976_977del
p.977_977del

-

-

Iossifov2012 E
Satterstrom2020 E

PLXNB2

SP0062312

chr22:
50721890-50721890

C

G

intronic

De novo

-

-

Fu2022 E

PLXNB2

AU1860302

chr22:
50748914-50748914

G

A

intergenic

De novo

-

-

Yuen2017 G

PLXNB2

SP0100438

chr22:
50719969-50719969

C

T

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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