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Results for "CYP2C18"

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
CYP2C18     AU0636303chr10:
96481595-96481597
TGATGAGAintronicDe novo--Yuen2017 G
CYP2C18     2-0045-003chr10:
96503334-96503334
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
CYP2C18     1-0652-004chr10:
96511249-96511249
GAintergenicDe novo--Yuen2017 G
CYP2C18     Cukier2014:17302chr10:
96447920-96447920
CTexonicUnknownnonsynonymous SNVNM_000772
NM_001128925
c.C370T
c.C370T
p.R124W
p.R124W
15.570.0086Cukier2014 E
CYP2C18     1-0092-003chr10:
96513752-96513752
TTCGCGCCACTGCintergenicDe novo--Yuen2017 G
CYP2C18     AU012804chr10:
96499250-96499250
CAintergenicDe novo--Yuen2017 G
CYP2C18     AU066403chr10:
96446906-96446906
GTintronicDe novo--Yuen2017 G
CYP2C18     1-0520-003chr10:
96504909-96504909
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
CYP2C18     AU2072302chr10:
96521095-96521095
TAintergenicDe 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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