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Results for "CYP2C9"

Variant Events: 13

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
CYP2C9     3F619chr10:
96707610-96707610
CTexonicDe novononsynonymous SNVNM_000771c.C556Tp.R186C17.156.602E-5Fu2022 E
CYP2C9     1-0901-004chr10:
96710644-96710644
CTintronicDe novo--Yuen2017 G
CYP2C9     1-0067-005chr10:
96721805-96721805
TGintronicDe novo--Yuen2017 G
CYP2C9     AU3368302chr10:
96746140-96746140
CTintronicDe novo--Yuen2017 G
CYP2C9     AU4015301chr10:
96745951-96745951
ACintronicDe novo-2.484E-5Yuen2017 G
CYP2C9     2-1378-003chr10:
96779486-96779486
CTintergenicDe novo--Yuen2017 G
CYP2C9     74-0765chr10:
96745800-96745800
TCexonicInheritednonsynonymous SNVNM_000771c.T1160Cp.I387T13.95-Patowary2019 E
CYP2C9     AU2293302chr10:
96756459-96756459
AGintergenicDe novo--Yuen2017 G
CYP2C9     AU4032305chr10:
96715018-96715018
AGintronicDe novo--Yuen2017 G
CYP2C9     iHART2116chr10:
96745873-96745874
CTCexonicMaternalframeshift deletionNM_000771c.1234delTp.F412fs--Ruzzo2019 G
CYP2C9     2-0003-003chr10:
96784751-96784751
CTintergenicDe novo--Yuen2017 G
CYP2C9     74-0752chr10:
96740996-96740996
CTexonicInheritedstopgainNM_000771c.C1018Tp.Q340X14.151.649E-5Patowary2019 E
CYP2C9     80001101629chr10:
96698392-96698392
GTupstreamDe novo--Satterstrom2020 E
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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