Variant Results

or

Results for "PCLO"

Variant Events: 63

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

PCLO

3-0393-000

chr7:
82584377-82584377

C

T

exonic

De novo

synonymous SNV

NM_014510
NM_033026

c.G5892A
c.G5892A

p.T1964T
p.T1964T

-

4.151E-5

Tammimies2015 E

PCLO

1-0402-004

chr7:
82737028-82737028

T

TGGCC

intronic

De novo

-

Yuen2017 G

PCLO

AU3702307

chr7:
82423390-82423390

T

C

intronic

De novo

-

Yuen2017 G

PCLO

PN400504

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

2-0070-003

chr7:
82430599-82430599

C

T

intronic

De novo

-

Yuen2017 G

PCLO

PN400587

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

1-0412-003

chr7:
82838121-82838121

A

C

intergenic

De novo

-

Yuen2017 G

PCLO

AU4159301

chr7:
82795386-82795386

G

T

intergenic

De novo

-

Yuen2017 G

PCLO

PN400393

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

7-0102-003

chr7:
82526914-82526914

T

C

intronic

De novo

-

Yuen2017 G

PCLO

SP0081088

chr7:
82508599-82508599

G

T

intronic

De novo

-

Fu2022 E

PCLO

SP0042412

chr7:
82545804-82545804

T

G

exonic

De novo

nonsynonymous SNV

NM_014510
NM_033026

c.A11498C
c.A11498C

p.Y3833S
p.Y3833S

16.92

-

Fu2022 E

PCLO

SP0062234

chr7:
82784423-82784423

G

A

exonic

De novo

stopgain

NM_014510
NM_033026

c.C1534T
c.C1534T

p.Q512X
p.Q512X

38.0

-

Fu2022 E

PCLO

SP0032696

chr7:
82538248-82538248

C

T

exonic

De novo

nonsynonymous SNV

NM_014510
NM_033026

c.G13382A
c.G13382A

p.R4461Q
p.R4461Q

16.43

8.313E-6

Fu2022 E

PCLO

SP0102620

chr7:
82545390-82545390

T

A

exonic

De novo

nonsynonymous SNV

NM_014510
NM_033026

c.A11912T
c.A11912T

p.E3971V
p.E3971V

17.97

-

Fu2022 E

PCLO

2-1272-003

chr7:
82771808-82771808

T

A

intronic

De novo

-

Yuen2016 G

PCLO

2-1729-003

chr7:
82853508-82853508

C

T

intergenic

De novo

-

Yuen2017 G

PCLO

72-0745

chr7:
82763882-82763882

G

A

exonic

Inherited

nonsynonymous SNV

NM_014510
NM_033026

c.C2984T
c.C2984T

p.P995L
p.P995L

5.713

-

Patowary2019 E

PCLO

1-0368-004

chr7:
82727956-82727956

T

C

intronic

De novo

-

Yuen2017 G

PCLO

PN400125

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

1-0395-003

chr7:
82430143-82430143

T

C

intronic

De novo

-

Yuen2017 G

PCLO

AU2139301

chr7:
82408973-82408973

G

T

intronic

De novo

-

Yuen2017 G

PCLO

2-1364-003

chr7:
82658995-82658995

T

C

intronic

De novo

-

Yuen2017 G

PCLO

AU4215302

chr7:
82906018-82906018

T

G

intergenic

De novo

-

Yuen2017 G

PCLO

80001101063

chr7:
82579998-82579998

C

T

exonic

De novo

synonymous SNV

NM_014510
NM_033026

c.G9906A
c.G9906A

p.Q3302Q
p.Q3302Q

-

8.282E-6

Fu2022 E
Satterstrom2020 E

PCLO

1-0567-003

chr7:
82429943-82429943

C

G

intronic

De novo

-

Yuen2017 G

PCLO

2-1440-003

chr7:
82489958-82489958

T

C

intronic

De novo

-

Yuen2017 G

PCLO

12449.p1

chr7:
82887288-82887288

T

C

intergenic

De novo

-

Turner2016 G

PCLO

AU4246304

chr7:
82525931-82525931

C

T

intronic

De novo

-

Yuen2017 G

PCLO

A26

chr7:
82911990-82911990

T

TTG

intergenic

De novo

-

Wu2018 G

PCLO

PN400590

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

2-0286-004

chr7:
82937926-82937926

C

T

intergenic

De novo

-

Yuen2017 G

PCLO

2-1089-003

chr7:
82914766-82914766

A

T

intergenic

De novo

-

Yuen2017 G

PCLO

PN400240

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

PN400157

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

PN400386

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

PN400396

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

PN400127

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

More2023:11

chr7:
82584378-82584378

G

A

exonic

Inherited

nonsynonymous SNV

NM_014510
NM_033026

c.C5891T
c.C5891T

p.T1964M
p.T1964M

0.029

5.0E-4

More2023 G

PCLO

PN400178

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

2-1429-003

chr7:
82542330-82542330

A

T

intronic

De novo

-

Yuen2017 G

PCLO

1-0010-003

chr7:
82429943-82429943

C

G

intronic

De novo

-

Yuen2017 G

PCLO

08C72695

chr7:
82544917-82544917

T

C

exonic

De novo

nonsynonymous SNV

NM_014510
NM_033026

c.A12385G
c.A12385G

p.K4129E
p.K4129E

18.36

-

Fu2022 E
Satterstrom2020 E

PCLO

5-0015-004

chr7:
82836603-82836603

C

T

intergenic

De novo

-

Yuen2017 G

PCLO

AU1742302

chr7:
82639900-82639905

AATTAT

AAT

intronic

De novo

-

Yuen2017 G

PCLO

AU4237304

chr7:
82691548-82691548

G

T

intronic

De novo

-

Yuen2017 G

PCLO

PN400363

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

GM182936

chr7:
82583913-82583913

G

C

exonic

De novo

nonsynonymous SNV

NM_014510
NM_033026

c.C6356G
c.C6356G

p.S2119W
p.S2119W

10.16

8.298E-6

Fu2022 E

PCLO

1-0366-003

chr7:
82532022-82532022

G

T

exonic

De novo

synonymous SNV

NM_014510
NM_033026

c.C13473A
c.C13473A

p.I4491I
p.I4491I

-

Yuen2015 G

PCLO

PN400507

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

JASD_Fam0158

chr7:
82544191-82544191

T

C

exonic

De novo

nonsynonymous SNV

NM_014510
NM_033026

c.A13111G
c.A13111G

p.M4371V
p.M4371V

8.807

8.314E-6

Takata2018 E

PCLO

PN400241

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

2-0278-003

chr7:
82825330-82825330

T

C

intergenic

De novo

-

Yuen2017 G

PCLO

AU3692301

chr7:
82901907-82901907

G

A

intergenic

De novo

-

Yuen2017 G

PCLO

2-1261-003

chr7:
82552100-82552103

GTTC

G

intronic

De novo

-

Yuen2017 G

PCLO

2-0242-003

chr7:
82960839-82960839

G

T

intergenic

De novo

-

Yuen2017 G

PCLO

ASP045

chr7:
82544191-82544191

T

C

exonic

De novo

nonsynonymous SNV

NM_014510
NM_033026

c.A13111G
c.A13111G

p.M4371V
p.M4371V

8.807

8.314E-6

Fu2022 E
Satterstrom2020 E

PCLO

PN400231

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

5-0065-003

chr7:
82430109-82430109

G

A

intronic

De novo

-

Yuen2017 G

PCLO

AU1635302

chr7:
82664812-82664812

A

C

intronic

De novo

-

Yuen2017 G

PCLO

PN400490

chr7:
82543843-82543845

CAT

C

intronic

Unknown

-

3.0E-4

Leblond2019 E

PCLO

7-0106-003

chr7:
82872794-82872795

CT

C

intergenic

De novo

-

Yuen2017 G

PCLO

AU4152303

chr7:
82424202-82424202

T

C

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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