Variant Results

or

Results for "FBXO18"

Variant Events: 12

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

FBXO18

1-0173-004

chr10:
5951620-5951640

GACAGAAAAATTAGGGGTCTT

G

intronic

De novo

-

Yuen2017 G

FBXO18

ASC_CA_198_A

chr10:
5936417-5936417

C

G

UTR5

De novo

-

Satterstrom2020 E

FBXO18

1-0546-003

chr10:
5957009-5957009

T

C

intronic

De novo

-

Yuen2017 G

FBXO18

11252.p1

chr10:
5963470-5963470

G

A

exonic

De novo

nonsynonymous SNV

NM_001258452
NM_178150
NM_001258453
NM_032807

c.G2038A
c.G2260A
c.G2038A
c.G2413A

p.V680M
p.V754M
p.V680M
p.V805M

21.9

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Turner2016 G

FBXO18

11318.p1

chr10:
5979124-5979124

C

T

exonic

De novo

stopgain

NM_178150
NM_001258452
NM_001258453
NM_032807

c.C3013T
c.C2842T
c.C2791T
c.C3166T

p.Q1005X
p.Q948X
p.Q931X
p.Q1056X

41.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

FBXO18

SSC02051

chr10:
5963470-5963470

G

A

exonic

De novo

nonsynonymous SNV

NM_001258452
NM_178150
NM_001258453
NM_032807

c.G2038A
c.G2260A
c.G2038A
c.G2413A

p.V680M
p.V754M
p.V680M
p.V805M

21.9

-

Fu2022 E
Lim2017 E

FBXO18

SSC02409

chr10:
5979124-5979124

C

T

exonic

De novo

stopgain

NM_178150
NM_001258452
NM_001258453
NM_032807

c.C3013T
c.C2842T
c.C2791T
c.C3166T

p.Q1005X
p.Q948X
p.Q931X
p.Q1056X

41.0

-

Fu2022 E
Lim2017 E

FBXO18

NDAR_INVGH325XTH_wes1

chr10:
5959667-5959667

T

C

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

FBXO18

SP0096706

chr10:
5948558-5948558

T

C

exonic

De novo

nonsynonymous SNV

NM_001258452
NM_178150
NM_001258453
NM_032807

c.T494C
c.T716C
c.T494C
c.T869C

p.V165A
p.V239A
p.V165A
p.V290A

26.4

-

Fu2022 E

FBXO18

SP0067223

chr10:
5958329-5958329

G

A

exonic

De novo

synonymous SNV

NM_001258452
NM_178150
NM_001258453
NM_032807

c.G1476A
c.G1698A
c.G1476A
c.G1851A

p.S492S
p.S566S
p.S492S
p.S617S

-

8.237E-6

Fu2022 E

FBXO18

SP0081780

chr10:
5950959-5950959

C

T

exonic

De novo

synonymous SNV

NM_001258452
NM_178150
NM_001258453
NM_032807

c.C603T
c.C825T
c.C603T
c.C978T

p.G201G
p.G275G
p.G201G
p.G326G

-

Fu2022 E

FBXO18

AU046706

chr10:
5958467-5958469

CAG

C

intronic

De novo

-

3.0E-4

Yuen2017 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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