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Results for "FBXW11"

Variant Events: 15

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
FBXW11     AU026412chr5:
171428250-171428257
GCAATCAAGCAAintronicDe novo--Yuen2017 G
FBXW11     5-0003-003chr5:
171429993-171429993
GTintronicDe novo--Yuen2017 G
FBXW11     2-1383-003chr5:
171317202-171317202
CAintronicDe novo--Yuen2017 G
FBXW11     AU4032307chr5:
171298394-171298394
GAintronicDe novo--Yuen2017 G
FBXW11     13895.p1chr5:
171326970-171326970
GAexonicDe novostopgainNM_033645
NM_012300
NM_033644
c.C406T
c.C508T
c.C469T
p.R136X
p.R170X
p.R157X
17.78-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
FBXW11     SSC09279chr5:
171326970-171326970
GAexonicMosaicstopgainNM_033645
NM_012300
NM_033644
c.C406T
c.C508T
c.C469T
p.R136X
p.R170X
p.R157X
17.78-Lim2017 E
FBXW11     2-1093-003chr5:
171398558-171398571
TTTTTCTGAAATAATintronicDe novo--Yuen2017 G
FBXW11     UK10K_SKUSE5080170chr5:
171337706-171337706
GCexonicDe novononsynonymous SNVNM_033645
NM_012300
NM_033644
c.C141G
c.C243G
c.C204G
p.D47E
p.D81E
p.D68E
10.43-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
FBXW11     A25chr5:
171366306-171366306
TCintronicDe novo--Wu2018 G
FBXW11     Mahjani2021:65chr5:
171337639-171337639
GAexonicnonsynonymous SNVNM_033645
NM_012300
NM_033644
c.C208T
c.C310T
c.C271T
p.H70Y
p.H104Y
p.H91Y
32.0-Mahjani2021 E
FBXW11     AU024104chr5:
171370385-171370385
CTintronicDe novo--Yuen2017 G
FBXW11     2-1425-004chr5:
171364554-171364554
TCintronicDe novo--Yuen2017 G
FBXW11     2-1093-009chr5:
171398558-171398571
TTTTTCTGAAATAATintronicDe novo--Yuen2017 G
FBXW11     1-0551-004chr5:
171354974-171354974
CTintronicDe novo--Yuen2017 G
FBXW11     2-1313-003chr5:
171342691-171342691
CTintronicDe novo--Yuen2016 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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