Variant Results

or

Results for "FBXO10"

Variant Events: 11

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

FBXO10

11629.p1

chr9:
37541606-37541606

C

T

exonic

De novo

nonsynonymous SNV

NM_012166

c.G160A

p.E54K

20.5

7.625E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FBXO10

SP0122716

chr9:
37537197-37537197

G

A

exonic

De novo

synonymous SNV

NM_012166

c.C1329T

p.G443G

-

2.492E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

FBXO10

AU2604301

chr9:
37553214-37553214

T

C

intronic

De novo

-

Trost2022 G

FBXO10

3-0354-000

chr9:
37562010-37562010

T

C

intronic

De novo

-

Trost2022 G

FBXO10

REACH000145

chr9:
37530755-37530755

G

A

intronic

De novo

-

Trost2022 G

FBXO10

1-0655-003

chr9:
37547353-37547353

C

T

intronic

De novo

-

Trost2022 G

FBXO10

7-0371-003

chr9:
37528374-37528374

T

C

intronic

De novo

-

Trost2022 G

FBXO10

14025.p1

chr9:
37522943-37522943

A

AC

exonic

frameshift insertion

NM_012166

c.1808dupG

p.G603fs

-

Zhou2022 GE

FBXO10

AU076704

chr9:
37519431-37519431

G

A

intronic

De novo

-

Yuen2017 G

FBXO10

AU2792301

chr9:
37509952-37509952

T

A

downstream

De novo

-

Trost2022 G
Yuen2017 G

FBXO10

14025.p1

chr9:
37522958-37522958

C

G

exonic

nonsynonymous SNV

NM_012166

c.G1794C

p.E598D

15.18

-

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
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