Variant Results

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or

Results for "FBXL18"

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

FBXL18

AU4067303

chr7:
5547873-5547873

G

GA

intronic

De novo

-

-

Yuen2017 G

FBXL18

14637.p1

chr7:
5539763-5539763

G

C

intronic

De novo

-

-

Turner2016 G

FBXL18

4-0046-004

chr7:
5551967-5551967

T

C

intronic

De novo

-

-

Trost2022 G

FBXL18

14394.p1

chr7:
5540692-5540692

C

T

exonic

nonsynonymous SNV

NM_024963

c.G1208A

p.R403H

14.61

-

Zhou2022 GE

FBXL18

MSSNG00249-003

chr7:
5540592-5540592

G

C

exonic

De novo

synonymous SNV

NM_024963

c.C1308G

p.P436P

0.01

-

Trost2022 G
Zhou2022 GE

FBXL18

1-0551-003

chr7:
5551732-5551732

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

FBXL18

1-0546-003

chr7:
5532096-5532096

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

FBXL18

mAGRE5201

chr7:
5540219-5540219

G

A

exonic

De novo

nonsynonymous SNV

NM_024963

c.C1681T

p.R561W

23.7

-

Cirnigliaro2023 G

FBXL18

mAGRE4698

chr7:
5531049-5531049

G

A

exonic

Paternal

stopgain

NM_024963

c.C1813T

p.Q605X

39.0

-

Cirnigliaro2023 G

FBXL18

7-0175-003

chr7:
5535946-5535946

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

FBXL18

36814

chr7:
5545309-5545309

G

A

intronic

De novo

-

-

Trost2022 G

FBXL18

14537.p1

chr7:
5545309-5545309

G

A

intronic

De novo

-

-

Satterstrom2020 E

FBXL18

AU2224301

chr7:
5535147-5535147

G

A

intronic

De novo

-

-

Trost2022 G

FBXL18

SP0007038

chr7:
5540515-5540515

G

A

exonic

De novo

nonsynonymous SNV

NM_024963

c.C1385T

p.P462L

9.215

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

FBXL18

SP0008770

chr7:
5553302-5553302

C

G

exonic

De novo

nonsynonymous SNV

NM_024963

c.G4C

p.A2P

16.63

-

Fu2022 E
Trost2022 G
Zhou2022 GE

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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