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Results for "PLXNA3"

Variant Events: 8

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
PLXNA3     Li2017:20727chrX:
153694155-153694155
ATexonicUnknownstopgainNM_017514c.A2497Tp.K833X40.0-Li2017 T
PLXNA3     Li2017:16070chrX:
153691782-153691782
GAexonicUnknownnonsynonymous SNVNM_017514c.G1366Ap.V456M19.421.0E-4Li2017 T
PLXNA3     A11chrX:
153698849-153698849
CTexonicDe novononsynonymous SNVNM_017514c.C5051Tp.S1684L23.1-Wu2018 G
PLXNA3     A11055-1chrX:
153698849-153698849
CTexonicUnknownnonsynonymous SNVNM_017514c.C5051Tp.S1684L23.1-Li2017 T
PLXNA3     AU018803chrX:
153690630-153690630
CTexonicUnknownnonsynonymous SNVNM_017514c.C1297Tp.R433C22.53.703E-5Stessman2017 T
PLXNA3     13250.p1chrX:
153692845-153692845
GAsplicingDe novosplicing15.65-Ji2016 E
Krumm2015 E
Satterstrom2020 E
PLXNA3     212-21002-1chrX:
153688845-153688845
CTexonicUnknownnonsynonymous SNVNM_017514c.C322Tp.R108C22.92.494E-5Stessman2017 T
PLXNA3     ASD099chrX:
153693430-153693430
CTexonicInheritednonsynonymous SNVNM_017514c.C2113Tp.R705W20.52.865E-5Tran2020 E
Wu2019 E
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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