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Results for "UPF3A"

Variant Events: 15

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     2-0307-004chr13:
115060705-115060705
CTintronicDe novo--Trost2022 G
Yuen2017 G
UPF3A     Marques2022:56chr13:
115048398-115048398
AGexonicnonsynonymous SNVNM_023011
NM_080687
c.A401G
c.A401G
p.Y134C
p.Y134C
15.713.0E-4Marques2022 ET
UPF3A     Marques2022:55chr13:
115048328-115048328
TCexonicnonsynonymous SNVNM_023011
NM_080687
c.T331C
c.T331C
p.Y111H
p.Y111H
22.9-Marques2022 ET
UPF3A     1-0606-003chr13:
115076680-115076684
ATTTTATTTintergenicDe novo--Yuen2017 G
UPF3A     Marques2022:62chr13:
115067205-115067205
GCsplicingsplicing10.15-Marques2022 ET
UPF3A     Marques2022:61chr13:
115057122-115057122
AGexonicnonsynonymous SNVNM_080687
NM_023011
c.A602G
c.A701G
p.E201G
p.E234G
23.6-Marques2022 ET
UPF3A     13089.p1chr13:
115057116-115057116
GAexonicDe novononsynonymous SNVNM_080687
NM_023011
c.G596A
c.G695A
p.R199Q
p.R232Q
25.21.651E-5Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
UPF3A     Marques2022:63chr13:
115067318-115067318
GAexonicnonsynonymous SNVNM_080687
NM_023011
c.G1021A
c.G1120A
p.E341K
p.E374K
14.711.775E-5Marques2022 ET
UPF3A     Marques2022:58chr13:
115051869-115051869
GAexonicnonsynonymous SNVNM_023011c.G514Ap.E172K34.01.0E-4Marques2022 ET
UPF3A     Marques2022:57chr13:
115048398-115048398
AGexonicnonsynonymous SNVNM_023011
NM_080687
c.A401G
c.A401G
p.Y134C
p.Y134C
15.713.0E-4Marques2022 ET
UPF3A     SSC06189chr13:
115057116-115057116
GAexonicDe novononsynonymous SNVNM_080687
NM_023011
c.G596A
c.G695A
p.R199Q
p.R232Q
25.21.651E-5Fu2022 E
Lim2017 E
Trost2022 G
UPF3A     Marques2022:60chr13:
115057018-115057018
AGexonicnonsynonymous SNVNM_080687
NM_023011
c.A587G
c.A686G
p.Q196R
p.Q229R
25.5-Marques2022 ET
UPF3A     mAGRE4394chr13:
115064339-115064339
GTexonicPaternalstopgainNM_080687
NM_023011
c.G772T
c.G871T
p.E258X
p.E291X
36.0-Cirnigliaro2023 G
UPF3A     Marques2022:59chr13:
115052084-115052084
CTexonicnonsynonymous SNVNM_080687
NM_023011
c.C512T
c.C611T
p.A171V
p.A204V
19.860.0015Marques2022 ET
UPF3A     1-0864-003chr13:
115046994-115046994
GCupstreamDe novo--Trost2022 G
Source Variant Information

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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 notesView
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