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Results for "LOC339593"

Variant Events: 18

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
LOC339593   A23chr20:
11735133-11735133
AGintergenicDe novo--Wu2018 G
LOC339593   2-1620-004chr20:
11416513-11416518
GCTGTTGintergenicDe novo--Yuen2017 G
LOC339593   1-0494-003chr20:
11556720-11556720
CTintergenicDe novo--Yuen2017 G
LOC339593   2-0323-004chr20:
11731405-11731405
CTintergenicDe novo--Yuen2017 G
LOC339593   1-0141-003chr20:
11690417-11690417
GCintergenicDe novo--Yuen2017 G
LOC339593   1-0494-003Achr20:
11556720-11556720
CTintergenicDe novo--Yuen2017 G
LOC339593   2-0012-004chr20:
11320478-11320478
ACintergenicDe novo--Yuen2017 G
LOC339593   2-0323-003chr20:
11297527-11297527
GAintergenicDe novo--Yuen2017 G
LOC339593   AU2569301chr20:
11572407-11572407
AGintergenicDe novo--Yuen2017 G
LOC339593   1-0253-004chr20:
11656044-11656044
CGintergenicDe novo--Yuen2017 G
LOC339593   2-0299-003chr20:
11555592-11555592
CTintergenicDe novo--Yuen2017 G
LOC339593   13300.p1chr20:
11503165-11503165
AGintergenicDe novo--Werling2018 G
LOC339593   7-0249-003chr20:
11266542-11266542
GAintergenicDe novo--Yuen2017 G
LOC339593   AU4444304chr20:
11360349-11360349
TAintergenicDe novo--Yuen2017 G
LOC339593   AU3888302chr20:
11626254-11626254
TCintergenicDe novo--Yuen2017 G
LOC339593   2-1461-003chr20:
11504256-11504256
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC339593   A24chr20:
11568894-11568894
CGintergenicDe novo--Wu2018 G
LOC339593   AU3862305chr20:
11417134-11417134
GTintergenicDe 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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