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Results for "UPF2"

Variant Events: 22

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     2-1407-003chr10:
12089889-12089889
AGintergenicDe novo--Yuen2017 G
UPF2     2-1406-003chr10:
12010988-12010988
TCintronicDe novo--Yuen2016 G
Yuen2017 G
UPF2     AU3779301chr10:
11997128-11997138
TATATAATATATATATAintronicDe novo--Yuen2017 G
UPF2     2-1195-003chr10:
12005355-12005355
GAintronicDe novo--Yuen2017 G
UPF2     5-0128-003chr10:
11990510-11990510
TGintronicDe novo--Yuen2017 G
UPF2     004-05-102519chr10:
11978573-11978573
TAexonicDe novononsynonymous SNVNM_015542
NM_080599
c.A3517T
c.A3517T
p.M1173L
p.M1173L
11.01-Satterstrom2020 E
UPF2     Marques2022:53chr10:
12071255-12071255
CTexonicnonsynonymous SNVNM_015542
NM_080599
c.G634A
c.G634A
p.A212T
p.A212T
29.84.985E-5Marques2022 ET
UPF2     AU2975302chr10:
11959609-11959609
CTintergenicDe novo--Yuen2017 G
UPF2     Marques2022:50chr10:
12021166-12021166
TCsplicingsplicing24.0-Marques2022 ET
UPF2     2-0171-003chr10:
11960430-11960430
GTintergenicDe novo--Yuen2017 G
UPF2     Marques2022:49chr10:
11998335-11998335
AGexonicnonsynonymous SNVNM_015542
NM_080599
c.T2558C
c.T2558C
p.I853T
p.I853T
21.88.246E-6Marques2022 ET
UPF2     Marques2022:52chr10:
12071235-12071235
ATexonicnonsynonymous SNVNM_015542
NM_080599
c.T654A
c.T654A
p.D218E
p.D218E
18.149.0E-4Marques2022 ET
UPF2     Marques2022:51chr10:
12071235-12071235
ATexonicnonsynonymous SNVNM_015542
NM_080599
c.T654A
c.T654A
p.D218E
p.D218E
18.149.0E-4Marques2022 ET
UPF2     2-0022-005chr10:
12099676-12099676
AGintergenicDe novo--Yuen2017 G
UPF2     2-0286-003chr10:
11990024-11990024
AGintronicDe novo--Yuen2017 G
UPF2     2-0304-003chr10:
12104651-12104651
GCintergenicDe novo--Yuen2017 G
UPF2     1-0541-004chr10:
12064020-12064020
TAintronicDe novo--Yuen2017 G
UPF2     AU4032307chr10:
12058806-12058806
GCintronicDe novo--Yuen2017 G
UPF2     A14chr10:
11961780-11961780
GAdownstreamDe novo--Wu2018 G
UPF2     AU3782303chr10:
11952310-11952310
CTintergenicDe novo--Yuen2017 G
UPF2     7-0148-003chr10:
12063593-12063593
ACintronicDe novo--Yuen2017 G
UPF2     993-20365chr10:
12009449-12009449
CTexonicInheritednonsynonymous SNVNM_015542
NM_080599
c.G1958A
c.G1958A
p.R653Q
p.R653Q
21.5-Callaghan2019 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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