Variant Results

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Results for "UPF3A"

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

UPF3A

2-0307-004

chr13:
115060705-115060705

C

T

intronic

De novo

-

-

Yuen2017 G

UPF3A

Marques2022:56

chr13:
115048398-115048398

A

G

exonic

nonsynonymous SNV

NM_023011
NM_080687

c.A401G
c.A401G

p.Y134C
p.Y134C

15.71

Marques2022 ET

UPF3A

Marques2022:55

chr13:
115048328-115048328

T

C

exonic

nonsynonymous SNV

NM_023011
NM_080687

c.T331C
c.T331C

p.Y111H
p.Y111H

22.9

-

Marques2022 ET

UPF3A

1-0606-003

chr13:
115076680-115076684

ATTTT

ATTT

intergenic

De novo

-

-

Yuen2017 G

UPF3A

Marques2022:62

chr13:
115067205-115067205

G

C

splicing

splicing

10.15

-

Marques2022 ET

UPF3A

Marques2022:61

chr13:
115057122-115057122

A

G

exonic

nonsynonymous SNV

NM_080687
NM_023011

c.A602G
c.A701G

p.E201G
p.E234G

23.6

-

Marques2022 ET

UPF3A

13089.p1

chr13:
115057116-115057116

G

A

exonic

De novo

nonsynonymous SNV

NM_080687
NM_023011

c.G596A
c.G695A

p.R199Q
p.R232Q

25.2

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

UPF3A

Marques2022:63

chr13:
115067318-115067318

G

A

exonic

nonsynonymous SNV

NM_080687
NM_023011

c.G1021A
c.G1120A

p.E341K
p.E374K

14.71

Marques2022 ET

UPF3A

Marques2022:58

chr13:
115051869-115051869

G

A

exonic

nonsynonymous SNV

NM_023011

c.G514A

p.E172K

34.0

Marques2022 ET

UPF3A

Marques2022:57

chr13:
115048398-115048398

A

G

exonic

nonsynonymous SNV

NM_023011
NM_080687

c.A401G
c.A401G

p.Y134C
p.Y134C

15.71

Marques2022 ET

UPF3A

SSC06189

chr13:
115057116-115057116

G

A

exonic

De novo

nonsynonymous SNV

NM_080687
NM_023011

c.G596A
c.G695A

p.R199Q
p.R232Q

25.2

Fu2022 E
Lim2017 E

UPF3A

Marques2022:60

chr13:
115057018-115057018

A

G

exonic

nonsynonymous SNV

NM_080687
NM_023011

c.A587G
c.A686G

p.Q196R
p.Q229R

25.5

-

Marques2022 ET

UPF3A

Marques2022:59

chr13:
115052084-115052084

C

T

exonic

nonsynonymous SNV

NM_080687
NM_023011

c.C512T
c.C611T

p.A171V
p.A204V

19.86

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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