Variant Results

or

Results for "TBL1XR1"

Variant Events: 51

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

TBL1XR1

2-1352-003

chr3:
176960061-176960061

G

A

intergenic

De novo

-

Yuen2017 G

TBL1XR1

13539.p1

chr3:
176828216-176828216

C

T

intronic

De novo

-

Turner2016 G

TBL1XR1

1-0119-004

chr3:
176898558-176898560

CTT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBL1XR1

AU055603

chr3:
176823292-176823292

A

C

intronic

De novo

-

Trost2022 G

TBL1XR1

MSSNG00438-003

chr3:
176823966-176823966

C

T

intronic

De novo

-

Trost2022 G

TBL1XR1

7-0342-003

chr3:
176789629-176789629

G

A

intronic

De novo

-

Trost2022 G

TBL1XR1

MSSNG00012-004A

chr3:
176803740-176803740

T

C

intronic

De novo

-

Trost2022 G

TBL1XR1

3-0284-000

chr3:
176771047-176771047

G

A

intronic

De novo

-

Trost2022 G

TBL1XR1

7-0373-003

chr3:
176780739-176780739

A

G

intronic

De novo

-

Trost2022 G

TBL1XR1

7-0373-003

chr3:
176769400-176769400

G

A

exonic

De novo

stopgain

NM_024665

c.C319T

p.Q107X

38.0

-

Trost2022 G
Zhou2022 GE

TBL1XR1

7-0321-003A

chr3:
176747558-176747558

A

C

intronic

De novo

-

Trost2022 G

TBL1XR1

37014

chr3:
176752047-176752048

TA

T

exonic

De novo

frameshift deletion

NM_024665

c.1188delT

p.T396fs

-

Trost2022 G

TBL1XR1

AU018010

chr3:
176882240-176882240

C

T

intronic

De novo

-

Trost2022 G

TBL1XR1

1-0296-003

chr3:
176796354-176796354

C

CGAAA

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBL1XR1

REACH000569

chr3:
176860708-176860708

A

T

intronic

De novo

-

Trost2022 G

TBL1XR1

MT_50.3

chr3:
176863347-176863347

G

A

intronic

De novo

-

Trost2022 G

TBL1XR1

MSSNG00403-003

chr3:
176836681-176836684

CATA

C

intronic

De novo

-

Trost2022 G

TBL1XR1

4-0075-003

chr3:
176859686-176859686

A

C

intronic

De novo

-

Trost2022 G

TBL1XR1

AU2863302

chr3:
176816524-176816524

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBL1XR1

AU2975302

chr3:
176901112-176901112

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBL1XR1

1-0233-004

chr3:
176845445-176845445

T

C

intronic

De novo

-

Yuen2017 G

TBL1XR1

SP0160070

chr3:
176769521-176769521

T

C

intronic

-

Zhou2022 GE

TBL1XR1

SP0016120

chr3:
176752110-176752110

A

G

exonic

nonsynonymous SNV

NM_024665

c.T1126C

p.W376R

21.2

-

Antaki2022 GE
Zhou2022 GE

TBL1XR1

SSC12438

chr3:
176752047-176752048

TA

T

exonic

frameshift deletion

NM_024665

c.1188delT

p.T396fs

-

Antaki2022 GE

TBL1XR1

SP0098421

chr3:
176767913-176767913

T

C

exonic

nonsynonymous SNV

NM_024665

c.A574G

p.T192A

27.5

-

Zhou2022 GE

TBL1XR1

SF0005327.p1

chr3:
176765101-176765101

G

C

exonic

nonsynonymous SNV

NM_024665

c.C851G

p.A284G

16.33

-

Wang2020 T

TBL1XR1

SF0042387.p1

chr3:
176756210-176756210

T

G

exonic

nonsynonymous SNV

NM_024665

c.A938C

p.D313A

19.63

-

Wang2020 T

TBL1XR1

SF0128381.p1

chr3:
176765286-176765286

A

G

exonic

nonsynonymous SNV

NM_024665

c.T754C

p.W252R

22.2

-

Wang2020 T

TBL1XR1

SSC04911

chr3:
176765107-176765107

A

G

exonic

nonsynonymous SNV

NM_024665

c.T845C

p.L282P

21.9

-

Antaki2022 GE

TBL1XR1

SP0042387

chr3:
176756210-176756210

T

G

exonic

De novo

nonsynonymous SNV

NM_024665

c.A938C

p.D313A

19.63

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

TBL1XR1

SF0016120.p1

chr3:
176752110-176752110

A

G

exonic

nonsynonymous SNV

NM_024665

c.T1126C

p.W376R

21.2

-

Wang2020 T

TBL1XR1

SP0128381

chr3:
176765286-176765286

A

G

exonic

De novo

nonsynonymous SNV

NM_024665

c.T754C

p.W252R

22.2

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

TBL1XR1

SP0005327

chr3:
176765101-176765101

G

C

exonic

De novo

nonsynonymous SNV

NM_024665

c.C851G

p.A284G

16.33

-

Fu2022 E
Zhou2022 GE

TBL1XR1

14612.p1

chr3:
176752047-176752048

TA

T

exonic

De novo

frameshift deletion

NM_024665

c.1188delT

p.T396fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE

TBL1XR1

12335.p1

chr3:
176765107-176765107

A

G

exonic

De novo

nonsynonymous SNV

NM_024665

c.T845C

p.L282P

21.9

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE

TBL1XR1

2-1376-003

chr3:
176859841-176859841

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TBL1XR1

C235803

chr3:
176771668-176771668

G

C

exonic

De novo

nonsynonymous SNV

NM_024665

c.C97G

p.H33D

22.8

-

Fu2022 E

TBL1XR1

2-0238-004

chr3:
176823504-176823504

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBL1XR1

EX04A

chr3:
176769377-176769377

G

A

exonic

De novo

synonymous SNV

NM_024665

c.C342T

p.A114A

-

2.499E-5

Fu2022 E

TBL1XR1

AU4007301

chr3:
176782998-176782998

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBL1XR1

1-0526-003

chr3:
176792174-176792174

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBL1XR1

5B478

chr3:
176768383-176768383

A

AT

exonic

De novo

frameshift insertion

NM_024665

c.442dupA

p.M148fs

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TBL1XR1

1-0296-004

chr3:
176796354-176796354

C

CGAAA

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBL1XR1

2-1715-003

chr3:
176784031-176784031

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBL1XR1

Krgovic2022:022941

chr3:
176769415-176769417

TAT

T

exonic

Unknown

frameshift deletion

NM_024665

c.302_303del

p.D101fs

-

Krgovic2022 E

TBL1XR1

Krgovic2022:022940

chr3:
176769415-176769417

TAT

T

exonic

Unknown

frameshift deletion

NM_024665

c.302_303del

p.D101fs

-

Krgovic2022 E

TBL1XR1

2-0144-004

chr3:
176843984-176843984

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBL1XR1

Krgovic2022:040139

chr3:
176752053-176752053

A

G

exonic

De novo

nonsynonymous SNV

NM_024665

c.T1183C

p.Y395H

26.0

-

Krgovic2022 E

TBL1XR1

08C72719

chr3:
176763960-176763960

G

A

exonic

De novo

synonymous SNV

NM_024665

c.C882T

p.D294D

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TBL1XR1

AU2029301

chr3:
176949559-176949559

A

G

intergenic

De novo

-

Yuen2017 G

TBL1XR1

7-0249-003

chr3:
176862279-176862279

C

T

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
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