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Results for "TLE4"

Variant Events: 13

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
TLE4     1-0041-003chr9:
82428964-82428964
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
TLE4     5-0129-003chr9:
82285443-82285451
ATTCATGTTAintronicDe novo--Yuen2017 G
TLE4     2-0081-003chr9:
82319869-82319869
CTintronicDe novo-0.0025Yuen2017 G
TLE4     12683.p1chr9:
82320871-82320871
TTAintronicDe novo-9.98E-5Satterstrom2020 E
TLE4     2-0081-003chr9:
82306560-82306560
CAintronicDe novo--Yuen2017 G
TLE4     SP0046081chr9:
82319881-82319881
CTintronicDe novo--Fu2022 E
TLE4     2-1341-004chr9:
82278139-82278139
AGintronicDe novo--Yuen2017 G
TLE4     SSC00527chr9:
82337496-82337496
CTexonicnonsynonymous SNVNM_001282753
NM_001282749
NM_007005
NM_001282748
NM_001282760
c.C1910T
c.C2042T
c.C2117T
c.C2213T
c.C1754T
p.S637L
p.S681L
p.S706L
p.S738L
p.S585L
35.0-Antaki2022 GE
TLE4     11199_p1chr9:
82337496-82337496
CTexonicDe novononsynonymous SNVNM_001282753
NM_001282749
NM_007005
NM_001282748
NM_001282760
c.C1910T
c.C2042T
c.C2117T
c.C2213T
c.C1754T
p.S637L
p.S681L
p.S706L
p.S738L
p.S585L
35.0-Fu2022 E
TLE4     11199.p1chr9:
82337496-82337496
CTexonicDe novononsynonymous SNVNM_001282753
NM_001282749
NM_007005
NM_001282748
NM_001282760
c.C1910T
c.C2042T
c.C2117T
c.C2213T
c.C1754T
p.S637L
p.S681L
p.S706L
p.S738L
p.S585L
35.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
TLE4     AU3451301chr9:
82334980-82334980
GAexonicDe novononsynonymous SNVNM_001282753
NM_001282749
NM_007005
NM_001282748
NM_001282760
c.G1403A
c.G1535A
c.G1610A
c.G1706A
c.G1247A
p.R468H
p.R512H
p.R537H
p.R569H
p.R416H
35.0-Yuen2017 G
TLE4     SP0010865chr9:
82323082-82323082
GAexonicDe novononsynonymous SNVNM_001282753
NM_001282749
NM_007005
NM_001282748
NM_001282760
c.G779A
c.G911A
c.G986A
c.G1082A
c.G623A
p.R260Q
p.R304Q
p.R329Q
p.R361Q
p.R208Q
28.5-Fu2022 E
TLE4     2-0238-004chr9:
82230058-82230058
TCintronicDe novo--Yuen2017 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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