Variant Results

or

Results for "TBX18"

Variant Events: 37

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

TBX18

5-0073-003

chr6:
85812803-85812803

C

T

intergenic

De novo

-

Yuen2017 G

TBX18

AU005213

chr6:
86136420-86136420

C

T

intergenic

De novo

-

Yuen2017 G

TBX18

08C74853

chr6:
85470056-85470056

C

G

exonic

De novo

nonsynonymous SNV

NM_001080508

c.G516C

p.M172I

13.73

-

Neale2012 E

TBX18

597-04-102165

chr6:
85446696-85446696

T

C

exonic

De novo

nonsynonymous SNV

NM_001080508

c.A1531G

p.N511D

9.683

-

Satterstrom2020 E

TBX18

2-1635-004

chr6:
86106532-86106532

T

C

intergenic

De novo

-

Yuen2017 G

TBX18

1-0482-003

chr6:
85518642-85518642

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TBX18

1-0546-003

chr6:
85422960-85422960

C

T

intergenic

De novo

-

Yuen2017 G

TBX18

1-0368-004

chr6:
85749825-85749825

G

A

intergenic

De novo

-

Yuen2017 G

TBX18

2-0299-003

chr6:
85654189-85654189

G

T

intergenic

De novo

-

Yuen2017 G

TBX18

2-1328-003

chr6:
85750955-85750955

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TBX18

7-0100-004

chr6:
85608002-85608002

A

C

intergenic

De novo

-

Yuen2017 G

TBX18

1-0304-003

chr6:
85832975-85832975

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TBX18

SP0020403

chr6:
85446469-85446470

GA

G

exonic

Inherited

frameshift deletion

NM_001080508

c.1757delT

p.F586fs

-

Feliciano2019 E

TBX18

1-0336-004

chr6:
85573572-85573575

TCCC

T

intergenic

De novo

-

Yuen2017 G

TBX18

11341.p1

chr6:
85696761-85696761

A

C

intergenic

De novo

-

Turner2016 G

TBX18

2-0012-004

chr6:
85548997-85548999

CAG

C

intergenic

De novo

-

Yuen2017 G

TBX18

2-1399-003

chr6:
86065684-86065684

A

C

intergenic

De novo

-

Yuen2017 G

TBX18

AU075803

chr6:
85550010-85550010

T

C

intergenic

De novo

-

Yuen2017 G

TBX18

AU3763305

chr6:
85945174-85945174

A

G

intergenic

De novo

-

Yuen2017 G

TBX18

AU3955303

chr6:
85599274-85599274

G

C

intergenic

De novo

-

Yuen2017 G

TBX18

AU3861301

chr6:
85522651-85522651

A

C

intergenic

De novo

-

Yuen2017 G

TBX18

1-0632-003

chr6:
85720019-85720019

C

A

intergenic

De novo

-

Yuen2017 G

TBX18

2-0323-003

chr6:
85800768-85800768

C

T

intergenic

De novo

-

Yuen2017 G

TBX18

2-1374-003

chr6:
85641510-85641510

C

T

intergenic

De novo

-

Yuen2017 G

TBX18

1339JS0017

chr6:
85470056-85470056

C

G

exonic

De novo

nonsynonymous SNV

NM_001080508

c.G516C

p.M172I

13.73

-

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

TBX18

1-0321-004

chr6:
85753616-85753616

G

A

intergenic

De novo

-

Yuen2017 G

TBX18

2-1506-003

chr6:
85486568-85486584

ATCTCTCTCTCTCTCTC

ATCTCTCTCTCTCTC

intergenic

De novo

-

Yuen2017 G

TBX18

1-0336-003

chr6:
85573572-85573575

TCCC

T

intergenic

De novo

-

Yuen2017 G

TBX18

1-0024-003

chr6:
85872945-85872945

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TBX18

2-0090-003

chr6:
86036530-86036530

G

A

intergenic

De novo

-

Yuen2017 G

TBX18

5-0042-003

chr6:
85917181-85917181

G

A

intergenic

De novo

-

Yuen2017 G

TBX18

AU3637301

chr6:
85901576-85901576

C

T

intergenic

De novo

-

Yuen2017 G

TBX18

1-0330-004

chr6:
85929784-85929784

C

T

intergenic

De novo

-

Yuen2017 G

TBX18

AU1668302

chr6:
85622804-85622804

A

C

intergenic

De novo

-

Yuen2017 G

TBX18

1-0141-003

chr6:
85800311-85800311

G

A

intergenic

De novo

-

Yuen2017 G

TBX18

1-0520-003

chr6:
85697943-85697943

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TBX18

5-0128-003

chr6:
85737677-85737677

G

A

intergenic

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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