Variant Results

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Results for "UPF3B"

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

UPF3B

ACGC_GD0001.p1

chrX:
118971887-118971887

G

A

exonic

Maternal

nonsynonymous SNV

NM_023010
NM_080632

c.C1096T
c.C1135T

p.R366C
p.R379C

21.3

Wang2020 T

UPF3B

Valentino2021:40

chrX:
118971734-118971734

G

A

exonic

Inherited

stopgain

NM_023010
NM_080632

c.C1249T
c.C1288T

p.R417X
p.R430X

37.0

-

Valentino2021 E

UPF3B

Leuven2_85828077

chrX:
118971962-118971962

G

A

exonic

Unknown

stopgain

NM_023010
NM_080632

c.C1021T
c.C1060T

p.R341X
p.R354X

33.0

-

Wang2020 T

UPF3B

11609.p1

Complex Event; expand row to view variants

Unknown, De novo

frameshift insertion

NM_023010
NM_080632
NM_023010
NM_080632

c.177dupT
c.177dupT
c.177dupT
c.177dupT

p.P60fs
p.P60fs
p.P59fs
p.P59fs

-

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE

UPF3B

D’Gama2015:5308

chrX:
118975088-118975088

A

G

exonic

Unknown

nonsynonymous SNV

NM_023010
NM_080632

c.T758C
c.T758C

p.I253T
p.I253T

2.285

D’Gama2015 T

UPF3B

Marques2022:293

chrX:
118985548-118985548

A

G

exonic

nonsynonymous SNV

NM_023010
NM_080632

c.T280C
c.T280C

p.Y94H
p.Y94H

19.34

-

Marques2022 ET

UPF3B

1-0862-003

chrX:
118971854-118971858

CTTTT

C

exonic

De novo

frameshift deletion

NM_023010
NM_080632

c.1125_1128del
c.1164_1167del

p.R375fs
p.R388fs

-

-

Wang2020 T
Zhou2022 GE

UPF3B

SSC03292

chrX:
118985815-118985815

G

GA

exonic

De novo

frameshift insertion

NM_023010
NM_080632

c.177dupT
c.177dupT

p.P60fs
p.P60fs

-

-

Trost2022 G

UPF3B

Marques2022:290

chrX:
118971854-118971854

C

A

exonic

stopgain

NM_023010
NM_080632

c.G1129T
c.G1168T

p.E377X
p.E390X

37.0

-

Marques2022 ET

UPF3B

Marques2022:292

chrX:
118971950-118971950

G

A

exonic

nonsynonymous SNV

NM_023010
NM_080632

c.C1033T
c.C1072T

p.R345C
p.R358C

20.2

Marques2022 ET

UPF3B

Marques2022:291

chrX:
118971901-118971901

C

T

exonic

nonsynonymous SNV

NM_023010
NM_080632

c.G1082A
c.G1121A

p.R361H
p.R374H

22.0

Marques2022 ET

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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