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Results for "LOC643339"

Variant Events: 14

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
LOC643339   74-0355chr12:
93657212-93657212
ACncRNA_intronicDe novo--Michaelson2012 G
LOC643339   AU4183301chr12:
93749028-93749028
TAncRNA_intronicDe novo--Yuen2017 G
LOC643339   1-0863-003chr12:
93480400-93480400
GAncRNA_intronicDe novo--Yuen2017 G
LOC643339   AU017304chr12:
93771391-93771391
TCncRNA_exonicDe novo--Yuen2017 G
LOC643339   2-1620-004chr12:
93681522-93681522
CGncRNA_intronicDe novo--Yuen2017 G
LOC643339   2-0285-003chr12:
93753111-93753111
AGncRNA_intronicDe novo--Yuen2017 G
LOC643339   2-1459-003chr12:
93421051-93421051
TCncRNA_intronicDe novo--Yuen2016 G
Yuen2017 G
LOC643339   AU3779301chr12:
93674645-93674645
TAncRNA_intronicDe novo--Yuen2017 G
LOC643339   AU006804chr12:
93556041-93556041
AGncRNA_intronicDe novo--Yuen2017 G
LOC643339   2-1143-003chr12:
93423028-93423028
GTncRNA_intronicDe novo--Yuen2017 G
LOC643339   AU1725306chr12:
93648919-93648919
TCncRNA_intronicDe novo--Yuen2017 G
LOC643339   1-0530-003chr12:
93734897-93734897
TAncRNA_intronicDe novo--Yuen2016 G
Yuen2017 G
LOC643339   1-0353-003chr12:
93540175-93540175
TCncRNA_intronicDe novo--Yuen2017 G
LOC643339   AU003405chr12:
93402158-93402158
CGncRNA_intronicDe 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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