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Results for "PLG"

Variant Events: 17

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
PLG     1-0347-003chr6:
161220654-161220654
TTTTAGTTTACintergenicDe novo--Yuen2017 G
PLG     14370.p1chr6:
161157224-161157224
AGintronicDe novo--Turner2016 G
PLG     AC843.202chr6:
161139767-161139767
GTexonicDe novononsynonymous SNVNM_000301c.G993Tp.R331S2.543-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PLG     11002.p1chr6:
161393816-161393816
GAintergenicDe novo--Turner2016 G
PLG     2-1644-004chr6:
161335341-161335341
CTintergenicDe novo--Yuen2017 G
PLG     5-0014-003chr6:
161198271-161198271
CGintergenicDe novo--Yuen2017 G
PLG     2-1066-003chr6:
161152909-161152909
CTexonicDe novononsynonymous SNVNM_000301c.C1571Tp.A524V12.41-Yuen2017 G
PLG     7-0223-003chr6:
161214038-161214038
CGintergenicDe novo--Yuen2017 G
PLG     2-1632-003chr6:
161147669-161147669
GAintronicDe novo--Yuen2017 G
PLG     AU3861303chr6:
161145428-161145428
AGintronicDe novo--Yuen2017 G
PLG     AU4219302chr6:
161405533-161405533
CGintergenicDe novo--Yuen2017 G
PLG     2-0713-003chr6:
161224744-161224744
ATintergenicDe novo--Yuen2017 G
PLG     AU2293302chr6:
161371353-161371353
GAintergenicDe novo--Yuen2017 G
PLG     AU4392302chr6:
161172706-161172706
TGintronicDe novo--Yuen2017 G
PLG     AU031204chr6:
161214203-161214203
GTintergenicDe novo--Yuen2017 G
PLG     AU3907302chr6:
161378224-161378224
GTintergenicDe novo--Yuen2017 G
PLG     5-0041-003chr6:
161269902-161269902
AGintergenicDe novo--Yuen2017 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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