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Results for "PLXNB2"

Variant Events: 9

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     AU2792302chr22:
50734270-50734270
CTintronicDe novo--Yuen2017 G
PLXNB2     04C31969chr22:
50719779-50719779
GAintronicDe novo--Satterstrom2020 E
PLXNB2     Yin2020:110chr22:
50728272-50728272
GAexonicnonsynonymous SNVNM_012401c.C742Tp.R248C20.84.195E-5Yin2020 T
PLXNB2     Yin2020:086chr22:
50728272-50728272
GAexonicnonsynonymous SNVNM_012401c.C742Tp.R248C20.84.195E-5Yin2020 T
PLXNB2     14162.p1chr22:
50727283-50727283
ACexonicMosaic, De novononsynonymous SNVNM_012401c.T1269Gp.D423E0.17-Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
PLXNB2     2-1620-004chr22:
50719773-50719773
CTintronicDe novo-1.0E-4Yuen2017 G
PLXNB2     1-0162-004chr22:
50732629-50732629
TTACintronicDe novo--Yuen2017 G
PLXNB2     12894.p1 Complex Event; expand row to view variants  De novononframeshift deletionNM_012401
NM_012401
c.2928_2930del
c.2929_2931del
p.976_977del
p.977_977del
--Iossifov2012 E
Satterstrom2020 E
PLXNB2     AU1860302chr22:
50748914-50748914
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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 notesView
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