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Results for "PLSCR4"

Variant Events: 11

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
PLSCR4     2-1266-003chr3:
146107178-146107178
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
PLSCR4     12449.p1chr3:
146127126-146127126
GCintergenicDe novo--Werling2018 G
PLSCR4     iHART1618chr3:
145917711-145917711
TTAexonicMaternalframeshift insertionNM_001128305
NM_020353
NM_001128304
c.512dupT
c.512dupT
c.512dupT
p.L171fs
p.L171fs
p.L171fs
--Ruzzo2019 G
PLSCR4     2-1436-003chr3:
146107932-146107932
GTintergenicDe novo--Yuen2017 G
PLSCR4     2-1741-003chr3:
146065159-146065159
CTintergenicDe novo--Yuen2017 G
PLSCR4     AU076704chr3:
146014066-146014066
GAintergenicDe novo--Yuen2017 G
PLSCR4     A2chr3:
146088074-146088074
GGTintergenicDe novo--Wu2018 G
PLSCR4     1-0566-003chr3:
146029494-146029494
CGintergenicDe novo--Yuen2017 G
PLSCR4     7-0197-003chr3:
146132465-146132465
TCintergenicDe novo--Yuen2017 G
PLSCR4     AU4264302chr3:
145918336-145918336
TAintronicDe novo--Yuen2017 G
PLSCR4     AU2433302chr3:
145992411-145992411
TCintergenicDe 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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