Variant Results

or

Results for "TBL1XR1"

Variant Events: 24

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

SF0128381.p1

chr3:
176765286-176765286

A

G

exonic

De novo

nonsynonymous SNV

NM_024665

c.T754C

p.W252R

22.2

-

Wang2020 T

TBL1XR1

2-1352-003

chr3:
176960061-176960061

G

A

intergenic

De novo

-

Yuen2017 G

TBL1XR1

SF0005327.p1

chr3:
176765101-176765101

G

C

exonic

De novo

nonsynonymous SNV

NM_024665

c.C851G

p.A284G

16.33

-

Wang2020 T

TBL1XR1

AU2863302

chr3:
176816524-176816524

C

T

intronic

De novo

-

Yuen2017 G

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

TBL1XR1

13539.p1

chr3:
176828216-176828216

C

T

intronic

De novo

-

Turner2016 G

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
Wang2020 T
Wilfert2021 G

TBL1XR1

2-1376-003

chr3:
176859841-176859841

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TBL1XR1

1-0296-004

chr3:
176796354-176796354

C

CGAAA

intronic

De novo

-

Yuen2017 G

TBL1XR1

2-1715-003

chr3:
176784031-176784031

G

C

intronic

De novo

-

Yuen2017 G

TBL1XR1

AU2975302

chr3:
176901112-176901112

T

C

intronic

De novo

-

Yuen2017 G

TBL1XR1

SF0042387.p1

chr3:
176756210-176756210

T

G

exonic

De novo

nonsynonymous SNV

NM_024665

c.A938C

p.D313A

19.63

-

Wang2020 T

TBL1XR1

SF0016120.p1

chr3:
176752110-176752110

A

G

exonic

De novo

nonsynonymous SNV

NM_024665

c.T1126C

p.W376R

21.2

-

Wang2020 T

TBL1XR1

1-0233-004

chr3:
176845445-176845445

T

C

intronic

De novo

-

Yuen2017 G

TBL1XR1

1-0119-004

chr3:
176898558-176898560

CTT

C

intronic

De novo

-

Yuen2017 G

TBL1XR1

2-0238-004

chr3:
176823504-176823504

G

C

intronic

De novo

-

Yuen2017 G

TBL1XR1

2-0144-004

chr3:
176843984-176843984

G

T

intronic

De novo

-

Yuen2017 G

TBL1XR1

08C72719

chr3:
176763960-176763960

G

A

exonic

De novo

synonymous SNV

NM_024665

c.C882T

p.D294D

-

Satterstrom2020 E

TBL1XR1

AU2029301

chr3:
176949559-176949559

A

G

intergenic

De novo

-

Yuen2017 G

TBL1XR1

AU4007301

chr3:
176782998-176782998

G

T

intronic

De novo

-

Yuen2017 G

TBL1XR1

7-0249-003

chr3:
176862279-176862279

C

T

intronic

De novo

-

Yuen2017 G

TBL1XR1

1-0296-003

chr3:
176796354-176796354

C

CGAAA

intronic

De novo

-

Yuen2017 G

TBL1XR1

1-0526-003

chr3:
176792174-176792174

G

A

intronic

De novo

-

Yuen2017 G

TBL1XR1

5B478

chr3:
176768383-176768383

A

AT

exonic

De novo

frameshift insertion

NM_024665

c.442dupA

p.M148fs

-

Satterstrom2020 E

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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