Variant Results

or

Results for "UPF2"

Variant Events: 30

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

UPF2

MSSNG00346-004

chr10:
12066299-12066299

C

T

intronic

De novo

-

Trost2022 G

UPF2

7-0292-004A

chr10:
12043072-12043072

T

C

intronic

De novo

-

Trost2022 G

UPF2

5-5202-003

chr10:
12047146-12047146

T

G

intronic

De novo

-

Trost2022 G

UPF2

5-1012-003

chr10:
12026872-12026872

C

T

intronic

De novo

-

Trost2022 G

UPF2

2-1076-004

chr10:
12037007-12037007

T

A

intronic

De novo

-

Trost2022 G

UPF2

SP0082022

chr10:
12070793-12070793

G

GT

exonic

De novo

frameshift insertion

NM_015542
NM_080599

c.1095dupA
c.1095dupA

p.H366fs
p.H366fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

UPF2

MSSNG00435-003

chr10:
11979008-11979008

C

A

intronic

De novo

-

Trost2022 G

UPF2

5-0128-003

chr10:
11990510-11990510

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

UPF2

Marques2022:53

chr10:
12071255-12071255

C

T

exonic

nonsynonymous SNV

NM_015542
NM_080599

c.G634A
c.G634A

p.A212T
p.A212T

29.8

4.985E-5

Marques2022 ET

UPF2

AU2975302

chr10:
11959609-11959609

C

T

intergenic

De novo

-

Yuen2017 G

UPF2

Marques2022:50

chr10:
12021166-12021166

T

C

splicing

24.0

-

Marques2022 ET

UPF2

Marques2022:49

chr10:
11998335-11998335

A

G

exonic

nonsynonymous SNV

NM_015542
NM_080599

c.T2558C
c.T2558C

p.I853T
p.I853T

21.8

8.246E-6

Marques2022 ET

UPF2

Marques2022:52

chr10:
12071235-12071235

A

T

exonic

nonsynonymous SNV

NM_015542
NM_080599

c.T654A
c.T654A

p.D218E
p.D218E

18.14

9.0E-4

Marques2022 ET

UPF2

Marques2022:51

chr10:
12071235-12071235

A

T

exonic

nonsynonymous SNV

NM_015542
NM_080599

c.T654A
c.T654A

p.D218E
p.D218E

18.14

9.0E-4

Marques2022 ET

UPF2

2-0022-005

chr10:
12099676-12099676

A

G

intergenic

De novo

-

Yuen2017 G

UPF2

A14

chr10:
11961780-11961780

G

A

downstream

De novo

-

Wu2018 G

UPF2

993-20365

chr10:
12009449-12009449

C

T

exonic

Inherited

nonsynonymous SNV

NM_015542
NM_080599

c.G1958A
c.G1958A

p.R653Q
p.R653Q

21.5

-

Callaghan2019 G

UPF2

2-1407-003

chr10:
12089889-12089889

A

G

intergenic

De novo

-

Yuen2017 G

UPF2

2-1406-003

chr10:
12010988-12010988

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

UPF2

AU3779301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

UPF2

SP0011117

chr10:
12001251-12001251

G

A

exonic

De novo

synonymous SNV

NM_015542
NM_080599

c.C2289T
c.C2289T

p.T763T
p.T763T

-

8.252E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

UPF2

2-1195-003

chr10:
12005355-12005355

G

A

intronic

De novo

-

Yuen2017 G

UPF2

004-05-102519

chr10:
11978573-11978573

T

A

exonic

De novo

nonsynonymous SNV

NM_015542
NM_080599

c.A3517T
c.A3517T

p.M1173L
p.M1173L

11.01

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UPF2

2-0171-003

chr10:
11960430-11960430

G

T

intergenic

De novo

-

Yuen2017 G

UPF2

2-0286-003

chr10:
11990024-11990024

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UPF2

2-0304-003

chr10:
12104651-12104651

G

C

intergenic

De novo

-

Yuen2017 G

UPF2

1-0541-004

chr10:
12064020-12064020

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UPF2

AU4032307

chr10:
12058806-12058806

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UPF2

AU3782303

chr10:
11952310-11952310

C

T

intergenic

De novo

-

Yuen2017 G

UPF2

7-0148-003

chr10:
12063593-12063593

A

C

intronic

De novo

-

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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