Variant Results

or

Results for "FBXW11"

Variant Events: 17

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

AU026412

chr5:
171428250-171428257

GCAATCAA

GCAA

intronic

De novo

-

Yuen2017 G

FBXW11

5-0003-003

chr5:
171429993-171429993

G

T

intronic

De novo

-

Yuen2017 G

FBXW11

2-1383-003

chr5:
171317202-171317202

C

A

intronic

De novo

-

Yuen2017 G

FBXW11

AU4032307

chr5:
171298394-171298394

G

A

intronic

De novo

-

Yuen2017 G

FBXW11

13895.p1

chr5:
171326970-171326970

G

A

exonic

De novo

stopgain

NM_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

SSC09279

chr5:
171326970-171326970

G

A

exonic

Mosaic

stopgain

NM_033645
NM_012300
NM_033644

c.C406T
c.C508T
c.C469T

p.R136X
p.R170X
p.R157X

17.78

-

Lim2017 E

FBXW11

2-1093-003

chr5:
171398558-171398571

TTTTTCTGAAATAA

T

intronic

De novo

-

Yuen2017 G

FBXW11

UK10K_SKUSE5080170

chr5:
171337706-171337706

G

C

exonic

De novo

nonsynonymous SNV

NM_033645
NM_012300
NM_033644

c.C141G
c.C243G
c.C204G

p.D47E
p.D81E
p.D68E

10.43

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

FBXW11

A25

chr5:
171366306-171366306

T

C

intronic

De novo

-

Wu2018 G

FBXW11

Mahjani2021:65

chr5:
171337639-171337639

G

A

exonic

nonsynonymous SNV

NM_033645
NM_012300
NM_033644

c.C208T
c.C310T
c.C271T

p.H70Y
p.H104Y
p.H91Y

32.0

-

Mahjani2021 E

FBXW11

SP0083539

chr5:
171384710-171384710

A

G

intronic

De novo

-

Fu2022 E

FBXW11

AU024104

chr5:
171370385-171370385

C

T

intronic

De novo

-

Yuen2017 G

FBXW11

2-1425-004

chr5:
171364554-171364554

T

C

intronic

De novo

-

Yuen2017 G

FBXW11

2-1093-009

chr5:
171398558-171398571

TTTTTCTGAAATAA

T

intronic

De novo

-

Yuen2017 G

FBXW11

1-0551-004

chr5:
171354974-171354974

C

T

intronic

De novo

-

Yuen2017 G

FBXW11

G01_GEA518HI

chr5:
171303662-171303662

A

C

intronic

De novo

-

Fu2022 E

FBXW11

2-1313-003

chr5:
171342691-171342691

C

T

intronic

De novo

-

Yuen2016 G

Source Variant Information

, -

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 notes	View
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