Variant Results

or

Results for "PBX1"

Variant Events: 72

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

PBX1

7-0458-003

chr1:
164696294-164696294

G

A

intronic

De novo

-

Trost2022 G

PBX1

1-1006-003A

chr1:
164671397-164671397

T

C

intronic

De novo

-

Trost2022 G

PBX1

3-0407-000

chr1:
164717547-164717547

G

A

intronic

De novo

-

Trost2022 G

PBX1

14-547

chr1:
164700704-164700705

CT

C

intronic

De novo

-

Trost2022 G

PBX1

2-1278-003

chr1:
165051366-165051366

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PBX1

AU079204

chr1:
164730830-164730830

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PBX1

4-0085-003

chr1:
164645409-164645409

C

T

intronic

De novo

-

Trost2022 G

PBX1

JASD_Fam0161

chr1:
164769051-164769051

G

C

exonic

De novo

nonsynonymous SNV

NM_001204961
NM_001204963
NM_002585

c.G626C
c.G626C
c.G626C

p.S209T
p.S209T
p.S209T

34.0

-

Takata2018 E

PBX1

2-1452-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PBX1

7-0203-003

chr1:
164635432-164635432

C

T

intronic

De novo

-

Trost2022 G

PBX1

2-0205-003

chr1:
164663611-164663611

G

A

intronic

De novo

-

Trost2022 G

PBX1

2-1619-003

chr1:
164848663-164848663

G

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PBX1

7-0483-003

chr1:
164645601-164645601

A

C

intronic

De novo

-

Trost2022 G

PBX1

1025

chr1:
164789551-164789551

C

T

intronic

De novo

-

Trost2022 G

PBX1

SP0040315

chr1:
164789367-164789367

A

T

exonic

De novo

synonymous SNV

NM_001204963
NM_002585

c.A1056T
c.A1056T

p.S352S
p.S352S

-

Trost2022 G

PBX1

AU2320301

chr1:
164795495-164795495

G

A

intronic

De novo

-

Trost2022 G

PBX1

1-0406-003

chr1:
164748303-164748303

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PBX1

MT_20.3

chr1:
164789589-164789589

C

T

intronic

De novo

-

Trost2022 G

PBX1

MSSNG00042-004

chr1:
164727471-164727471

A

G

intronic

De novo

-

Trost2022 G

PBX1

1-0479-006

chr1:
164726653-164726655

GAC

AAT

intronic

De novo

-

Trost2022 G

PBX1

SSC07280

chr1:
164761841-164761850

TCGGCGGCAG

T

exonic

De novo

nonframeshift deletion

NM_001204961
NM_001204963
NM_002585

c.377_385del
c.377_385del
c.377_385del

p.126_129del
p.126_129del
p.126_129del

-

Trost2022 G

PBX1

AU2310301

chr1:
164759253-164759253

A

C

intronic

De novo

-

Trost2022 G

PBX1

3-0140-000

chr1:
164763262-164763262

C

A

intronic

De novo

-

Yuen2017 G

PBX1

AU015903

chr1:
165018814-165018814

C

T

intergenic

De novo

-

Yuen2017 G

PBX1

AU4465303

chr1:
165165220-165165220

C

T

intergenic

De novo

-

Yuen2017 G

PBX1

1-1138-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

PBX1

1-1196-003

chr1:
164821214-164821214

A

G

downstream

De novo

-

Trost2022 G

PBX1

REACH000431

chr1:
164848473-164848473

G

A

intergenic

De novo

-

Trost2022 G

PBX1

AU3913303

chr1:
164946742-164946742

T

G

intergenic

De novo

-

Yuen2017 G

PBX1

SP0087684

chr1:
164768976-164768976

G

GA

exonic

De novo

frameshift insertion

NM_001204961
NM_001204963
NM_002585

c.552dupA
c.552dupA
c.552dupA

p.R184fs
p.R184fs
p.R184fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

PBX1

AU3801301

chr1:
164944683-164944683

T

C

intergenic

De novo

-

Yuen2017 G

PBX1

1-0757-003

chr1:
164973750-164973750

C

A

intergenic

De novo

-

Yuen2017 G

PBX1

2-1477-003

chr1:
164807630-164807630

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PBX1

SP0098826

chr1:
164769104-164769104

C

T

exonic

De novo

nonsynonymous SNV

NM_001204961
NM_001204963
NM_002585

c.C679T
c.C679T
c.C679T

p.R227C
p.R227C
p.R227C

27.7

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

PBX1

1-0563-003

chr1:
164860033-164860033

G

A

intergenic

De novo

-

Yuen2017 G

PBX1

AU2123301

chr1:
164933768-164933768

T

G

intergenic

De novo

-

Yuen2017 G

PBX1

AU060703

chr1:
164710908-164710908

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PBX1

1-0304-003

chr1:
164856479-164856480

AG

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PBX1

2-1168-003

chr1:
164700302-164700317

ATGTGTGTGTGTGTGT

ATGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

PBX1

2-0012-003

chr1:
164779561-164779561

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PBX1

2-0007-004

chr1:
164694576-164694576

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PBX1

1-0225-003

chr1:
164755699-164755699

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PBX1

2-1605-004

chr1:
165159757-165159757

T

A

intergenic

De novo

-

Yuen2017 G

PBX1

AU2162302

chr1:
165129112-165129125

GTATATATATATAT

GTATATATATATATAT

intergenic

De novo

-

Yuen2017 G

PBX1

2-1086-004

chr1:
164804860-164804865

CTCTTT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PBX1

13393.p1

chr1:
164761841-164761850

TCGGCGGCAG

T

exonic

De novo

nonframeshift deletion

NM_001204961
NM_001204963
NM_002585

c.377_385del
c.377_385del
c.377_385del

p.126_129del
p.126_129del
p.126_129del

-

Satterstrom2020 E
Zhou2022 GE

PBX1

1-0022-004

chr1:
164970955-164970955

C

T

intergenic

De novo

-

Yuen2017 G

PBX1

3-0431-000

chr1:
164678260-164678260

A

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PBX1

505-09-112395

chr1:
164769105-164769105

G

A

exonic

De novo

nonsynonymous SNV

NM_001204961
NM_001204963
NM_002585

c.G680A
c.G680A
c.G680A

p.R227H
p.R227H
p.R227H

27.6

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PBX1

SP0150750

chr1:
164769127-164769127

G

A

splicing

23.5

-

Zhou2022 GE

PBX1

SP0023423

chr1:
164815856-164815856

A

T

exonic

De novo

synonymous SNV

NM_002585

c.A1236T

p.S412S

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PBX1

SP0092197

chr1:
164818597-164818597

G

T

exonic

De novo

synonymous SNV

NM_001204963

c.G1221T

p.R407R

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PBX1

Miyake2023:9457

chr1:
164769051-164769051

G

C

exonic

De novo

nonsynonymous SNV

NM_001204961
NM_001204963
NM_002585

c.G626C
c.G626C
c.G626C

p.S209T
p.S209T
p.S209T

34.0

-

Miyake2023 E

PBX1

2-0304-003

chr1:
164624237-164624237

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PBX1

2-1480-003

chr1:
164961317-164961317

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PBX1

7-0256-003

chr1:
164864387-164864387

G

A

intergenic

De novo

-

Yuen2017 G

PBX1

AU3790302

chr1:
165128564-165128564

T

C

intergenic

De novo

-

Yuen2017 G

PBX1

A1

chr1:
165024265-165024265

G

A

intergenic

De novo

-

Wu2018 G

PBX1

2-1269-003

chr1:
164868232-164868232

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PBX1

1-0329-003

chr1:
165135362-165135362

C

G

intergenic

De novo

-

Yuen2017 G

PBX1

2-1510-003

chr1:
164769042-164769042

G

C

exonic

De novo

nonsynonymous SNV

NM_001204961
NM_001204963
NM_002585

c.G617C
c.G617C
c.G617C

p.R206P
p.R206P
p.R206P

33.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

PBX1

2-1300-003

chr1:
164715255-164715255

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PBX1

2-1272-003

chr1:
165103061-165103061

T

C

intergenic

De novo

-

Yuen2016 G

PBX1

1-0572-003

chr1:
164876936-164876936

A

G

intergenic

De novo

-

Yuen2017 G

PBX1

MSSNG00424-003

chr1:
164593132-164593132

C

T

intronic

De novo

-

Trost2022 G

PBX1

1024

chr1:
164581681-164581681

A

T

intronic

De novo

-

Trost2022 G

PBX1

1-0138-004

chr1:
164925013-164925013

C

T

intergenic

De novo

-

Yuen2017 G

PBX1

AU004403

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

PBX1

MSSNG00201-003

chr1:
164601865-164601865

G

A

intronic

De novo

-

Trost2022 G

PBX1

08C77554

chr1:
164532514-164532515

GT

G

exonic

De novo

frameshift deletion

NM_001204961
NM_001204963
NM_002585

c.232delT
c.232delT
c.232delT

p.F78fs
p.F78fs
p.F78fs

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Zhou2022 GE

PBX1

DEASD_0021_001

chr1:
164790805-164790805

C

T

exonic

De novo

nonsynonymous SNV

NM_001204963
NM_002585

c.C1142T
c.C1142T

p.T381I
p.T381I

25.1

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Zhou2022 GE

PBX1

MSSNG00329-004

chr1:
164567625-164567625

G

A

intronic

De novo

-

Trost2022 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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