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Results for "CYP4F12"

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
CYP4F12     AU056003chr19:
15806831-15806831
TCexonicDe novononsynonymous SNVNM_023944c.T1201Cp.C401R0.026-Yuen2017 G
CYP4F12     12826.p1chr19:
15791068-15791068
ACexonicDe novononsynonymous SNVNM_023944c.A358Cp.K120Q14.06-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
CYP4F12     14497.p1chr19:
15794447-15794447
TCexonicDe novosynonymous SNVNM_023944c.T792Cp.H264H-0.0055Iossifov2014 E
Kosmicki2017 E
CYP4F12     2-1341-004chr19:
15788015-15788015
CTintronicDe novo--Yuen2017 G
CYP4F12     AU3955303chr19:
15793710-15793710
GCintronicDe 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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