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Results for "PLPPR4"

Variant Events: 15

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
PLPPR4     3-0391-000chr1:
99908114-99908114
TGintergenicDe novo--Yuen2017 G
PLPPR4     7-0174-003chr1:
99729262-99729262
CAupstreamDe novo--Yuen2017 G
PLPPR4     1-0885-003chr1:
99744996-99744996
CTintronicDe novo--Yuen2017 G
PLPPR4     152407chr1:
99771842-99771842
CAexonicDe novononsynonymous SNVNM_001166252
NM_014839
c.C1394A
c.C1568A
p.S465Y
p.S523Y
16.66-Satterstrom2020 E
PLPPR4     1-0482-003chr1:
99807353-99807353
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
PLPPR4     1-0534-004chr1:
99881749-99881749
GAintergenicDe novo--Yuen2017 G
PLPPR4     A17chr1:
99897890-99897890
AGintergenicDe novo--Wu2018 G
PLPPR4     2-0090-003chr1:
99854415-99854415
GAintergenicDe novo--Yuen2017 G
PLPPR4     5-0116-003chr1:
99771222-99771222
GTintronicDe novo--Yuen2017 G
PLPPR4     2-1195-003chr1:
99755508-99755508
AGintronicDe novo--Yuen2016 G
Yuen2017 G
PLPPR4     2-1690-003chr1:
99805627-99805627
CTintergenicDe novo--Yuen2017 G
PLPPR4     1-0446-003chr1:
99821669-99821669
GGATTintergenicDe novo--Yuen2017 G
PLPPR4     AU007503chr1:
99887851-99887851
TGintergenicDe novo--Yuen2017 G
PLPPR4     AU4013303chr1:
99856933-99856933
TGintergenicDe novo--Yuen2017 G
PLPPR4     74-0075chr1:
99887851-99887851
TGintergenicDe novo--Michaelson2012 G
Source Variant Information

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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 notesView
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