Variant Results

or

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

1-0041-003

chr9:
82428964-82428964

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TLE4

5-0129-003

chr9:
82285443-82285451

ATTCATGTT

A

intronic

De novo

-

Yuen2017 G

TLE4

2-0081-003

chr9:
82319869-82319869

C

T

intronic

De novo

-

0.0025

Yuen2017 G

TLE4

12683.p1

chr9:
82320871-82320871

T

TA

intronic

De novo

-

9.98E-5

Satterstrom2020 E

TLE4

2-0081-003

chr9:
82306560-82306560

C

A

intronic

De novo

-

Yuen2017 G

TLE4

SP0046081

chr9:
82319881-82319881

C

T

intronic

De novo

-

Fu2022 E

TLE4

2-1341-004

chr9:
82278139-82278139

A

G

intronic

De novo

-

Yuen2017 G

TLE4

SSC00527

chr9:
82337496-82337496

C

T

exonic

nonsynonymous SNV

NM_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_p1

chr9:
82337496-82337496

C

T

exonic

De novo

nonsynonymous SNV

NM_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.p1

chr9:
82337496-82337496

C

T

exonic

De novo

nonsynonymous SNV

NM_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

AU3451301

chr9:
82334980-82334980

G

A

exonic

De novo

nonsynonymous SNV

NM_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

SP0010865

chr9:
82323082-82323082

G

A

exonic

De novo

nonsynonymous SNV

NM_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

2-0238-004

chr9:
82230058-82230058

T

C

intronic

De novo

-

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 notes	View
	More