Variant Results

or

Results for "USP46"

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

USP46

11050.p1

chr4:
53492207-53492207

G

A

exonic

De novo

nonsynonymous SNV

NM_001134223
NM_001286767
NM_022832
NM_001286768

c.C518T
c.C503T
c.C539T
c.C191T

p.T173I
p.T168I
p.T180I
p.T64I

14.8

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

USP46

11050_p1

chr4:
53492207-53492207

G

A

exonic

De novo

nonsynonymous SNV

NM_001134223
NM_001286767
NM_022832
NM_001286768

c.C518T
c.C503T
c.C539T
c.C191T

p.T173I
p.T168I
p.T180I
p.T64I

14.8

-

Fu2022 E

USP46

1-0279-004

chr4:
53462574-53462574

T

A

UTR3

De novo

-

Trost2022 G
Yuen2017 G

USP46

7-0106-003

chr4:
53456313-53456313

T

A

downstream

De novo

-

Trost2022 G
Yuen2017 G

USP46

2-1131-003

chr4:
53465984-53465984

C

T

intronic

De novo

-

Yuen2017 G

USP46

SSC02257

chr4:
53492207-53492207

G

A

exonic

nonsynonymous SNV

NM_001134223
NM_001286767
NM_022832
NM_001286768

c.C518T
c.C503T
c.C539T
c.C191T

p.T173I
p.T168I
p.T180I
p.T64I

14.8

-

Antaki2022 GE

USP46

10-1127-003A

chr4:
53474392-53474392

G

A

intronic

De novo

-

Trost2022 G

USP46

SP0055903

chr4:
53525340-53525340

C

T

UTR5

De novo

-

Fu2022 E
Trost2022 G

USP46

1-0345-003

chr4:
53481572-53481572

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

USP46

2007-24164

chr4:
53464810-53464810

T

G

exonic

nonsynonymous SNV

NM_001134223
NM_001286767
NM_022832
NM_001286768

c.A962C
c.A947C
c.A983C
c.A635C

p.D321A
p.D316A
p.D328A
p.D212A

22.1

-

Callaghan2019 G

USP46

4-0062-003

chr4:
53486931-53486933

CTG

ATT

intronic

De novo

-

Trost2022 G

USP46

AU4250301

chr4:
53510033-53510033

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

USP46

3-0221-000

chr4:
53523029-53523029

A

G

intronic

De novo

-

Trost2022 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
	More