Variant Results

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Results for "FBXW5"

Variant Events: 13

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

FBXW5

JASD_Fam0256

chr9:
139836869-139836870

TG

T

exonic

De novo

frameshift deletion

NM_018998

c.724delC

p.Q242fs

-

-

Takata2018 E

FBXW5

AU3808305

chr9:
139836001-139836001

G

T

exonic

De novo

stopgain

NM_018998

c.C1232A

p.S411X

37.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

FBXW5

SP0090613

chr9:
139836052-139836052

G

A

exonic

De novo

nonsynonymous SNV

NM_018998

c.C1181T

p.A394V

13.15

Fu2022 E
Zhou2022 GE

FBXW5

MT_188.3

chr9:
139836278-139836278

C

G

intronic

De novo

-

-

Trost2022 G

FBXW5

SP0134192

chr9:
139837721-139837721

T

A

intronic

De novo

-

-

Trost2022 G

FBXW5

14094.p1

chr9:
139835997-139835997

G

A

exonic

Mosaic

synonymous SNV

NM_018998

c.C1236T

p.P412P

-

Dou2017 E
Krupp2017 E

FBXW5

2-1734-004

chr9:
139835057-139835057

C

T

UTR3

De novo

-

-

Trost2022 G

FBXW5

SP0041760

chr9:
139835703-139835703

C

T

exonic

De novo

nonsynonymous SNV

NM_018998

c.G1457A

p.S486N

28.7

-

Fu2022 E
Zhou2022 GE

FBXW5

SP0252744

chr9:
139836209-139836211

CAG

C

intronic

De novo

-

-

Trost2022 G

FBXW5

MSSNG00251-003

chr9:
139834343-139834343

C

T

downstream

De novo

-

-

Trost2022 G

FBXW5

1-0777-003

chr9:
139835962-139835962

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FBXW5

PN400129

chr9:
139836842-139836842

G

A

exonic

De novo

nonsynonymous SNV

NM_018998

c.C752T

p.T251M

11.39

Leblond2019 E

FBXW5

PN400129

chr9:
139836001-139836001

G

A

exonic

De novo

nonsynonymous SNV

NM_018998

c.C1232T

p.S411L

24.2

Leblond2019 E

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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