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Results for "COG3"

Variant Events: 9

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
COG3     1-0918-003chr13:
46027156-46027156
CGintergenicDe novo--Yuen2017 G
COG3     12247.p1chr13:
46108789-46108789
AGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
COG3     AU3052302chr13:
45999663-45999663
AGintergenicDe novo--Yuen2017 G
COG3     AU4054301chr13:
46049584-46049584
CTintronicDe novo--Yuen2017 G
COG3     AU3702307chr13:
46044803-46044803
TGintronicDe novo--Yuen2017 G
COG3     AU034903chr13:
46085659-46085659
CGintronicDe novo--Yuen2017 G
COG3     AU3702307chr13:
46047587-46047587
CTintronicDe novo--Yuen2017 G
COG3     MT_151chr13:
46050463-46050463
GTexonicMaternalnonsynonymous SNVNM_031431c.G302Tp.R101I14.99-Toma2013 E
COG3     2-1107-003chr13:
45996689-45996689
ATintergenicDe 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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