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Results for "FBXL6"

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
FBXL6     1-0231-003chr8:
145579963-145579963
GCexonicDe novononsynonymous SNVNM_012162
NM_024555
c.C1222G
c.C1204G
p.R408G
p.R402G
2.394-Yuen2015 G
FBXL6     SSC06654chr8:
145580321-145580321
CTexonicDe novononsynonymous SNVNM_012162
NM_024555
c.G932A
c.G914A
p.R311H
p.R305H
2.2881.667E-5Lim2017 E
FBXL6     13874.p1chr8:
145580668-145580668
CTexonicDe novosynonymous SNVNM_012162
NM_024555
c.G753A
c.G735A
p.L251L
p.L245L
-8.336E-6Satterstrom2020 E
Turner2016 G
FBXL6     SP0023093chr8:
145579317-145579317
CGexonicMosaicsynonymous SNVNM_012162
NM_024555
c.G1494C
c.G1476C
p.P498P
p.P492P
-8.757E-6Feliciano2019 E
FBXL6     iHART1751chr8:
145579627-145579627
CTsplicingMaternalsplicing14.67-Ruzzo2019 G
FBXL6     13063.p1chr8:
145580321-145580321
CTexonicDe novononsynonymous SNVNM_012162
NM_024555
c.G932A
c.G914A
p.R311H
p.R305H
2.2881.667E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 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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