Variant Results

or

Results for "TBXAS1"

Variant Events: 42

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

TBXAS1

2-1223-003

chr7:
139609788-139609788

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBXAS1

Chen2017:117

chr7:
139652364-139652364

C

T

exonic

De novo

synonymous SNV

NM_001166253

c.C468T

p.I156I

-

Chen2017 E

TBXAS1

AU031403

chr7:
139504286-139504286

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBXAS1

5-0086-003

chr7:
139520150-139520150

G

T

intronic

De novo

-

Trost2022 G

TBXAS1

3-0662-000

chr7:
139520952-139520952

T

G

intronic

De novo

-

Trost2022 G

TBXAS1

200675725_1082034211

chr7:
139652364-139652364

C

T

exonic

De novo

synonymous SNV

NM_001166253

c.C468T

p.I156I

-

Fu2022 E

TBXAS1

2-1750-003

chr7:
139505305-139505305

C

T

intronic

De novo

-

Trost2022 G

TBXAS1

MSSNG00353-003

chr7:
139519225-139519225

G

C

intronic

De novo

-

Trost2022 G

TBXAS1

200675725@1082034211

chr7:
139652364-139652364

C

T

exonic

De novo

synonymous SNV

NM_001166253

c.C468T

p.I156I

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TBXAS1

2-1814-003

chr7:
139599883-139599883

C

T

intronic

De novo

-

Trost2022 G

TBXAS1

MSSNG00437-003

chr7:
139637957-139637957

C

T

intronic

De novo

-

Trost2022 G

TBXAS1

MSSNG00011-004

chr7:
139584231-139584231

G

A

intronic

De novo

-

Trost2022 G

TBXAS1

2-1350-004

chr7:
139511287-139511287

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBXAS1

1034

chr7:
139589520-139589520

C

T

intronic

De novo

-

Trost2022 G

TBXAS1

1-0043-003

chr7:
139532138-139532138

A

AGAATT

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBXAS1

3-0197-000

chr7:
139570306-139570306

T

C

intronic

De novo

-

Trost2022 G

TBXAS1

1-0112-003

chr7:
139567879-139567879

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBXAS1

AU2212301

chr7:
139570531-139570531

T

C

intronic

De novo

-

Trost2022 G

TBXAS1

AU3506302

chr7:
139571897-139571897

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBXAS1

MSSNG00256-004

chr7:
139531271-139531271

G

T

intronic

De novo

-

Trost2022 G

TBXAS1

3-0873-000

chr7:
139535716-139535716

G

T

intronic

De novo

-

Trost2022 G

TBXAS1

REACH000202

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

TBXAS1

REACH000443

chr7:
139686357-139686357

T

C

intronic

De novo

-

Trost2022 G

TBXAS1

mAGRE1365

chr7:
139655364-139655364

T

TG

exonic

Paternal

frameshift insertion

NM_001061
NM_001314028
NM_030984
NM_001166253
NM_001166254
NM_001130966

c.649_650insG
c.589_590insG
c.649_650insG
c.787_788insG
c.445_446insG
c.649_650insG

p.F217fs
p.F197fs
p.F217fs
p.F263fs
p.F149fs
p.F217fs

-

8.271E-6

Cirnigliaro2023 G

TBXAS1

2-1692-003

chr7:
139657404-139657404

C

CAAA

intronic

De novo

-

Trost2022 G

TBXAS1

mAGRE5439

chr7:
139575436-139575438

GGT

G

splicing;exonic

Maternal

frameshift deletion

NM_001314028

c.151_152del

p.V51fs

-

Cirnigliaro2023 G

TBXAS1

MSSNG00255-004

chr7:
139659863-139659863

A

C

intronic

De novo

-

Trost2022 G

TBXAS1

MSSNG00017-003

chr7:
139650682-139650682

C

T

intronic

De novo

-

Trost2022 G

TBXAS1

1-0287-003

chr7:
139572069-139572069

T

C

exonic

De novo

nonsynonymous SNV

NM_001061
NM_001166253
NM_030984
NM_001130966

c.T128C
c.T128C
c.T128C
c.T128C

p.L43S
p.L43S
p.L43S
p.L43S

15.72

-

Trost2022 G
Zhou2022 GE

TBXAS1

1-0333-003

chr7:
139655500-139655500

C

A

intronic

De novo

-

Trost2022 G

TBXAS1

MSSNG00350-003

chr7:
139650210-139650210

T

C

intronic

De novo

-

Trost2022 G

TBXAS1

AU2577301

chr7:
139650682-139650682

C

T

intronic

De novo

-

Trost2022 G

TBXAS1

2-1594-003

chr7:
139706398-139706398

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBXAS1

5-0109-003

chr7:
139714722-139714722

A

G

intronic

De novo

-

Trost2022 G

TBXAS1

1-0126-004

chr7:
139563067-139563067

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBXAS1

1-0450-003

chr7:
139535014-139535014

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBXAS1

08C77155

chr7:
139661813-139661813

C

T

exonic

De novo

synonymous SNV

NM_001061
NM_001314028
NM_030984
NM_001166253
NM_001166254
NM_001130966

c.C918T
c.C858T
c.C918T
c.C1056T
c.C714T
c.C918T

p.S306S
p.S286S
p.S306S
p.S352S
p.S238S
p.S306S

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TBXAS1

1-0067-005

chr7:
139504279-139504279

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBXAS1

AU3637301

chr7:
139681211-139681211

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBXAS1

1-1004-003

chr7:
139560210-139560210

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBXAS1

2-1461-003

chr7:
139710614-139710614

G

A

intronic

De novo

-

Yuen2017 G

TBXAS1

SP0147773

chr7:
139719910-139719910

T

G

UTR3

De novo

-

Fu2022 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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