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Results for "LOC100133091"

Variant Events: 16

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
LOC100133091    1-0591-003chr7:
76580221-76580221
AGintergenicDe novo--Yuen2017 G
LOC100133091    2-0022-005chr7:
76448450-76448450
GTintergenicDe novo--Yuen2017 G
LOC100133091    AU1687303chr7:
76497954-76497954
TCintergenicDe novo--Yuen2017 G
LOC100133091    AU4211304chr7:
76185627-76185627
GAncRNA_intronicDe novo--Yuen2017 G
LOC100133091    AU2458302chr7:
76439923-76439923
GAintergenicDe novo--Yuen2017 G
LOC100133091    AU4212303chr7:
76563032-76563037
TAGAAGTAGintergenicDe novo--Yuen2017 G
LOC100133091    AU2427303chr7:
76308357-76308357
CTintergenicDe novo--Yuen2017 G
LOC100133091    63-449chr7:
76468894-76468894
CAintergenicDe novo--Michaelson2012 G
LOC100133091    AU3371302chr7:
76209966-76209966
AGncRNA_intronicDe novo--Yuen2017 G
LOC100133091    AU0638302chr7:
76256226-76256226
TCncRNA_exonicDe novo--Yuen2017 G
LOC100133091    AU3695303chr7:
76223168-76223168
CGncRNA_intronicDe novo--Yuen2017 G
LOC100133091    1-0196-005chr7:
76473224-76473230
AGGGGGGAGGGGGGGintergenicDe novo--Yuen2017 G
LOC100133091    AU1687302chr7:
76497954-76497954
TCintergenicDe novo--Yuen2017 G
LOC100133091    13116.p1chr7:
76461487-76461488
AGAintergenicDe novo--Werling2018 G
LOC100133091    7-0254-004chr7:
76339756-76339756
GAintergenicDe novo--Yuen2017 G
LOC100133091    1-0466-003chr7:
76397039-76397039
GCintergenicDe 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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