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Results for "LOC101927043"

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
LOC101927043    AU4314302chr2:
47461794-47461794
GCncRNA_intronicDe novo--Yuen2017 G
LOC101927043    13649.p1chr2:
47546253-47546253
CTncRNA_intronicDe novo--Werling2018 G
LOC101927043    2-1299-003chr2:
47519821-47519834
TTGAAGAACATTTGTncRNA_intronicDe novo--Yuen2017 G
LOC101927043    AU2100302chr2:
47486182-47486182
CTncRNA_intronicDe novo--Yuen2017 G
LOC101927043    AU3398301chr2:
47448094-47448094
GAncRNA_exonicDe novo--Yuen2017 G
LOC101927043    7-0127-003chr2:
47467161-47467161
TGncRNA_intronicDe novo--Yuen2017 G
LOC101927043    2-1715-004chr2:
47517811-47517811
CTncRNA_intronicDe novo--Yuen2017 G
LOC101927043    2-1715-004chr2:
47519821-47519834
TTGAAGAACATTTGTncRNA_intronicDe novo--Yuen2017 G
LOC101927043    AU4365302chr2:
47494715-47494715
GCncRNA_intronicDe novo--Yuen2017 G
LOC101927043    1-0986-003chr2:
47445643-47445643
GAncRNA_intronicDe novo--Yuen2017 G
LOC101927043    1-0777-003chr2:
47505607-47505607
AGncRNA_intronicDe novo--Yuen2017 G
LOC101927043    AU3905301chr2:
47461654-47461654
GCncRNA_intronicDe novo--Yuen2017 G
LOC101927043    AU4168306chr2:
47433097-47433097
GAncRNA_intronicDe novo--Yuen2017 G
LOC101927043    2-1291-003chr2:
47449080-47449080
AGncRNA_intronicDe novo--Yuen2016 G
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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