or
or
Exact

Results for "QTRT2"

Variant Events: 12

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
QTRT2     14527.p1chr3:
113795683-113795683
GAexonicDe novononsynonymous SNVNM_001256836
NM_001256837
NM_001256835
NM_024638
c.G322A
c.G271A
c.G676A
c.G640A
p.V108M
p.V91M
p.V226M
p.V214M
27.48.247E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
QTRT2     5020chr3:
113784140-113784140
TGexonicDe novononsynonymous SNVNM_001256835
NM_024638
c.T72G
c.T36G
p.C24W
p.C12W
17.495.0E-4Trost2022 G
QTRT2     2-0160-003chr3:
113791501-113791501
TCintronicDe novo--Trost2022 G
QTRT2     AU056204chr3:
113842265-113842265
CGintergenicDe novo--Yuen2017 G
QTRT2     36791chr3:
113795683-113795683
GAexonicDe novononsynonymous SNVNM_001256836
NM_001256837
NM_001256835
NM_024638
c.G322A
c.G271A
c.G676A
c.G640A
p.V108M
p.V91M
p.V226M
p.V214M
27.48.247E-6Fu2022 E
Trost2022 G
QTRT2     1-1206-003chr3:
113777058-113777058
TGintronicDe novo--Trost2022 G
QTRT2     Lim2017:36791chr3:
113795683-113795683
GAexonicDe novononsynonymous SNVNM_001256836
NM_001256837
NM_001256835
NM_024638
c.G322A
c.G271A
c.G676A
c.G640A
p.V108M
p.V91M
p.V226M
p.V214M
27.48.247E-6Lim2017 E
QTRT2     2-1526-003chr3:
113785668-113785668
CGintronicDe novo--Trost2022 G
Yuen2017 G
QTRT2     AU050603chr3:
113840015-113840015
GCintergenicDe novo--Yuen2017 G
QTRT2     11414.p1chr3:
113784140-113784140
TGexonicDe novononsynonymous SNVNM_001256835
NM_024638
c.T72G
c.T36G
p.C24W
p.C12W
17.495.0E-4Satterstrom2020 E
QTRT2     111304chr3:
113795699-113795699
TCexonicnonsynonymous SNVNM_001256836
NM_001256837
NM_001256835
NM_024638
c.T338C
c.T287C
c.T692C
c.T656C
p.L113P
p.L96P
p.L231P
p.L219P
27.31.65E-5Woodbury-Smith2022 E
QTRT2     2-1427-003chr3:
113782987-113782987
GAintronicDe novo--Trost2022 G
Yuen2017 G
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