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Results for "PLXNB1"

Variant Events: 14

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.p1chr3:
48457121-48457121
CAexonicDe novononsynonymous SNVNM_001130082
NM_002673
c.G3665T
c.G3665T
p.R1222L
p.R1222L
8.546-Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Wilfert2021 G
PLXNB1     12689.p1chr3:
48464316-48464316
GAexonicDe novononsynonymous SNVNM_001130082
NM_002673
c.C1148T
c.C1148T
p.P383L
p.P383L
24.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
PLXNB1     217-14242-3660chr3:
48456749-48456749
GAexonicUnknownnonsynonymous SNVNM_001130082
NM_002673
c.C3802T
c.C3802T
p.R1268C
p.R1268C
22.9-Stessman2017 T
PLXNB1     Stessman2017:ASD_1500chr3:
48447196-48447196
CTexonicUnknownnonsynonymous SNVNM_001130082
NM_002673
c.G6238A
c.G6238A
p.G2080R
p.G2080R
14.221.0E-4Stessman2017 T
PLXNB1     2-0309-005chr3:
48471086-48471086
CTintronicDe novo--Yuen2017 G
PLXNB1     SSC05224chr3:
48457121-48457121
CAexonicDe novononsynonymous SNVNM_001130082
NM_002673
c.G3665T
c.G3665T
p.R1222L
p.R1222L
8.546-Lim2017 E
PLXNB1     09C97129chr3:
48455355-48455356
CACexonicDe novoframeshift deletionNM_001130082
NM_002673
c.4334delT
c.4334delT
p.L1445fs
p.L1445fs
--DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Willsey2013 E
PLXNB1     217-14371-4840chr3:
48459731-48459731
GAexonicDe novononsynonymous SNVNM_001130082
NM_002673
c.C3091T
c.C3091T
p.R1031C
p.R1031C
31.02.0E-4Stessman2017 T
PLXNB1     E9R8Hchr3:
48460711-48460711
ACexonicInheritednonsynonymous SNVNM_001130082
NM_002673
c.T2774G
c.T2774G
p.M925R
p.M925R
13.219.34E-6Stessman2017 T
PLXNB1     220-9802-203chr3:
48464209-48464209
CTexonicUnknownnonsynonymous SNVNM_001130082
NM_002673
c.G1255A
c.G1255A
p.A419T
p.A419T
26.02.479E-5Stessman2017 T
PLXNB1     05C38979chr3:
48455336-48455336
GAexonicDe novostopgainNM_001130082
NM_002673
c.C4354T
c.C4354T
p.R1452X
p.R1452X
44.0-Stessman2017 T
Stessman2017 T
PLXNB1     F8V5Ychr3:
48454004-48454004
CTexonicUnknownnonsynonymous SNVNM_001130082
NM_002673
c.G4880A
c.G4880A
p.R1627H
p.R1627H
25.88.314E-6Stessman2017 T
PLXNB1     60-1057chr3:
48456740-48456740
ACexonicInheritednonsynonymous SNVNM_001130082
NM_002673
c.T3811G
c.T3811G
p.C1271G
p.C1271G
8.7111.0E-4Patowary2019 E
PLXNB1     SSC05224chr3:
48464316-48464316
GAexonicDe novononsynonymous SNVNM_001130082
NM_002673
c.C1148T
c.C1148T
p.P383L
p.P383L
24.8-Lim2017 E
Source Variant Information

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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 notesView
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