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Results for "CYP4F2"

Variant Events: 5

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
CYP4F2     08C74918chr19:
15997110-15997110
GAexonicDe novosynonymous SNVNM_001082c.C927Tp.D309D-6.592E-5Satterstrom2020 E
CYP4F2     09C85376chr19:
15996850-15996850
CTexonicDe novosynonymous SNVNM_001082c.G999Ap.T333T12.395.783E-5Satterstrom2020 E
CYP4F2     MT_109chr19:
16003189-16003189
GAexonicPaternalnonsynonymous SNVNM_001082c.C455Tp.T152M13.125.0E-4Toma2013 E
CYP4F2     AU4093301chr19:
15991296-15991296
GTintronicDe novo--Yuen2017 G
CYP4F2     AU4260303chr19:
15994930-15994930
AGintronicDe 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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