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Results for "KIAA0087"

Variant Events: 10

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
KIAA0087     AU0636303chr7:
26617344-26617344
AGintergenicDe novo--Yuen2017 G
KIAA0087     2-1352-003chr7:
26598934-26598934
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
KIAA0087     AU066104chr7:
26628643-26628643
CTintergenicDe novo--Yuen2017 G
KIAA0087     1-0080-003chr7:
26573623-26573623
TAncRNA_exonicDe novo--Yuen2017 G
KIAA0087     2-0225-004chr7:
26583352-26583352
GAintergenicDe novo--Yuen2017 G
KIAA0087     1-0191-004chr7:
26626663-26626663
CTintergenicDe novo--Yuen2017 G
KIAA0087     2-1411-003chr7:
26626871-26626871
GAintergenicDe novo--Yuen2017 G
KIAA0087     AU002903chr7:
26663650-26663650
ACintergenicDe novo--Yuen2017 G
KIAA0087     A14chr7:
26658409-26658409
GAintergenicDe novo--Wu2018 G
KIAA0087     AU3913301chr7:
26666726-26666726
GAintergenicDe 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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