Variant Results

or

Results for "UPF1"

Variant Events: 27

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

UPF1

AU060703

chr19:
18954416-18954416

C

T

intronic

De novo

-

Yuen2017 G

UPF1

NDAR_INVKJ869LFL_wes1

chr19:
18958640-18958640

C

G

exonic

De novo

synonymous SNV

NM_001297549
NM_002911

c.C459G
c.C459G

p.G153G
p.G153G

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UPF1

DEASD_0221_001

chr19:
18965942-18965942

G

A

exonic

De novo

nonsynonymous SNV

NM_001297549
NM_002911

c.G1468A
c.G1435A

p.V490M
p.V479M

26.9

-

DeRubeis2014 E
Kosmicki2017 E
Zhou2022 GE

UPF1

09C91248A

chr19:
18976921-18976921

G

A

exonic

De novo

synonymous SNV

NM_001297549
NM_002911

c.G3339A
c.G3306A

p.Q1113Q
p.Q1102Q

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UPF1

1-0455-003

chr19:
18953868-18953868

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UPF1

AU043804

chr19:
18951751-18951751

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UPF1

09C95785

chr19:
18974967-18974967

A

C

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

UPF1

SP0022323

chr19:
18968250-18968250

G

A

exonic

De novo

nonsynonymous SNV

NM_001297549
NM_002911

c.G2123A
c.G2090A

p.R708H
p.R697H

33.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

UPF1

Wang2023:493

chr19:
18965994-18965994

C

T

exonic

De novo

nonsynonymous SNV

NM_001297549
NM_002911

c.C1520T
c.C1487T

p.T507M
p.T496M

25.9

8.341E-6

Wang2023 E

UPF1

SP0050664

chr19:
18960942-18960942

G

A

exonic

De novo

nonsynonymous SNV

NM_001297549
NM_002911

c.G520A
c.G520A

p.G174R
p.G174R

24.2

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

UPF1

SP0033571

chr19:
18943268-18943268

T

G

intronic

De novo

-

Trost2022 G

UPF1

2-1182-003

chr19:
18970058-18970058

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

UPF1

5-5069-003

chr19:
18943597-18943597

G

T

intronic

De novo

-

Trost2022 G

UPF1

SP0096154

chr19:
18967865-18967869

CGTGT

C

intronic

De novo

-

Fu2022 E

UPF1

SP0100365

chr19:
18966876-18966876

A

C

exonic

De novo

nonsynonymous SNV

NM_001297549
NM_002911

c.A1720C
c.A1687C

p.N574H
p.N563H

15.3

-

Fu2022 E
Trost2022 G
Zhou2022 GE

UPF1

Marques2022:142

chr19:
18966038-18966038

C

T

exonic

nonsynonymous SNV

NM_001297549
NM_002911

c.C1564T
c.C1531T

p.R522W
p.R511W

21.3

8.452E-6

Marques2022 ET

UPF1

Marques2022:141

chr19:
18960931-18960931

T

A

exonic

nonsynonymous SNV

NM_001297549
NM_002911

c.T509A
c.T509A

p.L170Q
p.L170Q

24.5

-

Marques2022 ET

UPF1

Marques2022:144

chr19:
18968277-18968277

C

A

exonic

nonsynonymous SNV

NM_001297549
NM_002911

c.C2150A
c.C2117A

p.P717H
p.P706H

26.0

-

Marques2022 ET

UPF1

SP0028343

chr19:
18968144-18968144

G

A

exonic

nonsynonymous SNV

NM_001297549
NM_002911

c.G2017A
c.G1984A

p.D673N
p.D662N

22.5

-

Zhou2022 GE

UPF1

Marques2022:143

chr19:
18968162-18968162

C

A

exonic

nonsynonymous SNV

NM_001297549
NM_002911

c.C2035A
c.C2002A

p.P679T
p.P668T

24.1

-

Marques2022 ET

UPF1

80001100931

chr19:
18976521-18976521

C

T

exonic

De novo

synonymous SNV

NM_001297549
NM_002911

c.C3204T
c.C3171T

p.G1068G
p.G1057G

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UPF1

REACH000520

chr19:
18966415-18966415

C

T

intronic

De novo

-

Trost2022 G

UPF1

AU3124304

chr19:
18975703-18975703

A

G

intronic

De novo

-

Trost2022 G

UPF1

150852

chr19:
18968252-18968252

C

T

exonic

De novo

synonymous SNV

NM_001297549
NM_002911

c.C2125T
c.C2092T

p.L709L
p.L698L

-

8.341E-6

Fu2022 E

UPF1

2-1442-003

chr19:
18962981-18962981

C

T

exonic

De novo

nonsynonymous SNV

NM_001297549
NM_002911

c.C848T
c.C848T

p.P283L
p.P283L

23.6

2.483E-5

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

UPF1

2-0122-003

chr19:
18954458-18954458

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UPF1

21970-37819

chr19:
18968255-18968255

C

T

exonic

Inherited

stopgain

NM_001297549
NM_002911

c.C2128T
c.C2095T

p.Q710X
p.Q699X

43.0

-

Callaghan2019 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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