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Results for "COQ8A"

Variant Events: 7

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
COQ8A     2-1408-003chr1:
227127633-227127633
GAupstreamDe novo--Yuen2017 G
COQ8A     AU-13901chr1:
227174299-227174299
CGexonicnonsynonymous SNVNM_020247c.C1805Gp.P602R28.14.12E-5Doan2019 E
COQ8A     AU060004chr1:
227165603-227165603
CTintronicDe novo--Yuen2017 G
COQ8A     AU076704chr1:
227140367-227140367
CTintronicDe novo--Yuen2017 G
COQ8A     2-0318-003chr1:
227166135-227166135
TAintronicDe novo--Yuen2017 G
COQ8A     1-0763-004chr1:
227133217-227133217
CTintronicDe novo--Yuen2017 G
COQ8A     2-0149-005chr1:
227147698-227147698
GGGTGGTACTTGGTGGTACTTGGTGGTGGTGGTGGTAintronicDe 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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