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Results for "UPF1"

Variant Events: 16

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     Marques2022:142chr19:
18966038-18966038
CTexonicnonsynonymous SNVNM_001297549
NM_002911
c.C1564T
c.C1531T
p.R522W
p.R511W
21.38.452E-6Marques2022 ET
UPF1     AU060703chr19:
18954416-18954416
CTintronicDe novo--Yuen2017 G
UPF1     Marques2022:141chr19:
18960931-18960931
TAexonicnonsynonymous SNVNM_001297549
NM_002911
c.T509A
c.T509A
p.L170Q
p.L170Q
24.5-Marques2022 ET
UPF1     Marques2022:144chr19:
18968277-18968277
CAexonicnonsynonymous SNVNM_001297549
NM_002911
c.C2150A
c.C2117A
p.P717H
p.P706H
26.0-Marques2022 ET
UPF1     Marques2022:143chr19:
18968162-18968162
CAexonicnonsynonymous SNVNM_001297549
NM_002911
c.C2035A
c.C2002A
p.P679T
p.P668T
24.1-Marques2022 ET
UPF1     NDAR_INVKJ869LFL_wes1chr19:
18958640-18958640
CGexonicDe novosynonymous SNVNM_001297549
NM_002911
c.C459G
c.C459G
p.G153G
p.G153G
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
UPF1     80001100931chr19:
18976521-18976521
CTexonicDe novosynonymous SNVNM_001297549
NM_002911
c.C3204T
c.C3171T
p.G1068G
p.G1057G
--Satterstrom2020 E
UPF1     DEASD_0221_001chr19:
18965942-18965942
GAexonicDe novononsynonymous SNVNM_001297549
NM_002911
c.G1468A
c.G1435A
p.V490M
p.V479M
26.9-DeRubeis2014 E
Kosmicki2017 E
UPF1     09C91248Achr19:
18976921-18976921
GAexonicDe novosynonymous SNVNM_001297549
NM_002911
c.G3339A
c.G3306A
p.Q1113Q
p.Q1102Q
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
UPF1     1-0455-003chr19:
18953868-18953868
AGintronicDe novo--Yuen2017 G
UPF1     AU043804chr19:
18951751-18951751
CGintronicDe novo--Yuen2017 G
UPF1     09C95785chr19:
18974967-18974967
ACintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
UPF1     2-1442-003chr19:
18962981-18962981
CTexonicDe novononsynonymous SNVNM_001297549
NM_002911
c.C848T
c.C848T
p.P283L
p.P283L
23.62.483E-5Yuen2016 G
Yuen2017 G
UPF1     2-1182-003chr19:
18970058-18970058
GAintronicDe novo--Yuen2016 G
Yuen2017 G
UPF1     2-0122-003chr19:
18954458-18954458
CTintronicDe novo--Yuen2017 G
UPF1     21970-37819chr19:
18968255-18968255
CTexonicInheritedstopgainNM_001297549
NM_002911
c.C2128T
c.C2095T
p.Q710X
p.Q699X
43.0-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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