or
or
Exact

Results for "UPF3B"

Variant Events: 10

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.p1chrX:
118971887-118971887
GAexonicMaternalnonsynonymous SNVNM_023010
NM_080632
c.C1096T
c.C1135T
p.R366C
p.R379C
21.31.142E-5Wang2020 T
UPF3B     Valentino2021:40chrX:
118971734-118971734
GAexonicInheritedstopgainNM_023010
NM_080632
c.C1249T
c.C1288T
p.R417X
p.R430X
37.0-Valentino2021 E
UPF3B     11609.p1 Complex Event; expand row to view variants  Unknown, De novoframeshift insertionNM_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
UPF3B     D’Gama2015:5308chrX:
118975088-118975088
AGexonicUnknownnonsynonymous SNVNM_023010
NM_080632
c.T758C
c.T758C
p.I253T
p.I253T
2.2851.161E-5D’Gama2015 T
UPF3B     1-0862-003chrX:
118971854-118971858
CTTTTCexonicDe novoframeshift deletionNM_023010
NM_080632
c.1125_1128del
c.1164_1167del
p.R375fs
p.R388fs
--Wang2020 T
UPF3B     Leuven2_85828077chrX:
118971962-118971962
GAexonicUnknownstopgainNM_023010
NM_080632
c.C1021T
c.C1060T
p.R341X
p.R354X
33.0-Wang2020 T
UPF3B     Marques2022:293chrX:
118985548-118985548
AGexonicnonsynonymous SNVNM_023010
NM_080632
c.T280C
c.T280C
p.Y94H
p.Y94H
19.34-Marques2022 ET
UPF3B     Marques2022:290chrX:
118971854-118971854
CAexonicstopgainNM_023010
NM_080632
c.G1129T
c.G1168T
p.E377X
p.E390X
37.0-Marques2022 ET
UPF3B     Marques2022:292chrX:
118971950-118971950
GAexonicnonsynonymous SNVNM_023010
NM_080632
c.C1033T
c.C1072T
p.R345C
p.R358C
20.25.0E-4Marques2022 ET
UPF3B     Marques2022:291chrX:
118971901-118971901
CTexonicnonsynonymous SNVNM_023010
NM_080632
c.G1082A
c.G1121A
p.R361H
p.R374H
22.06.0E-4Marques2022 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 notesView
More