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Results for "CYP4F11"

Variant Events: 6

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
CYP4F11     SP0048973chr19:
16045080-16045080
GAexonicDe novononsynonymous SNVNM_021187
NM_001128932
c.C139T
c.C139T
p.R47C
p.R47C
8.765.774E-5Fu2022 E
Trost2022 G
Zhou2022 GE
CYP4F11     mAGRE4707chr19:
16045019-16045019
ATsplicingMaternalsplicing10.58-Cirnigliaro2023 G
CYP4F11     2-1737-003chr19:
16034940-16034940
CTintronicDe novo--Trost2022 G
Yuen2017 G
CYP4F11     SP0133650chr19:
16033105-16033105
GTintronicDe novo--Trost2022 G
CYP4F11     JASD_Fam0045chr19:
16045146-16045146
CGexonicDe novononsynonymous SNVNM_021187
NM_001128932
c.G73C
c.G73C
p.V25L
p.V25L
8.039-Takata2018 E
CYP4F11     SP0226499chr19:
16034582-16034582
TTCCAintronicDe novo--Trost2022 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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