Variant Results

or

Results for "PCNX1"

Variant Events: 49

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

PCNX1

B205803

chr14:
71444756-71444756

C

T

exonic

De novo

nonsynonymous SNV

NM_001308160
NM_014982

c.C1702T
c.C1702T

p.R568W
p.R568W

13.59

-

Fu2022 E

PCNX1

mAGRE4192

chr14:
71576521-71576521

C

T

exonic

Paternal

stopgain

NM_001308160
NM_014982

c.C6562T
c.C6895T

p.R2188X
p.R2299X

21.7

8.24E-6

Cirnigliaro2023 G

PCNX1

2-1722-003

chr14:
71481000-71481000

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX1

2-1406-003

chr14:
71736561-71736565

CTATT

CT

intergenic

De novo

-

Yuen2017 G

PCNX1

SP0127961

chr14:
71568703-71568703

T

C

intronic

De novo

-

Fu2022 E
Zhou2022 GE

PCNX1

AU011604

chr14:
71632529-71632529

C

T

intergenic

De novo

-

Yuen2017 G

PCNX1

AU3506303

chr14:
71747992-71747992

G

T

intergenic

De novo

-

Yuen2017 G

PCNX1

2-0285-004

chr14:
71772905-71772905

T

C

intergenic

De novo

-

Yuen2017 G

PCNX1

AU4188302

chr14:
71445807-71445807

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX1

AU3702307

chr14:
71404168-71404168

C

T

intronic

De novo

-

Yuen2017 G

PCNX1

2-1086-003

chr14:
71769515-71769515

C

A

intergenic

De novo

-

Yuen2017 G

PCNX1

1-0304-003

chr14:
71494838-71494838

A

T

intronic

De novo

-

Yuen2016 G

PCNX1

1-0914-003

chr14:
71648659-71648659

C

T

intergenic

De novo

-

Yuen2017 G

PCNX1

AU2525302

chr14:
71841265-71841265

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PCNX1

1-0139-005

chr14:
71563884-71563884

G

T

intronic

De novo

-

Yuen2017 G

PCNX1

2-1327-004

chr14:
71451261-71451261

G

GACA

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX1

2-1690-003

chr14:
71496412-71496412

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX1

DEASD_0396_001

chr14:
71555004-71555004

T

G

intronic

De novo

-

Kosmicki2017 E

PCNX1

AU1933301

chr14:
71441265-71441265

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX1

AU4452302

chr14:
71627884-71627884

T

G

intergenic

De novo

-

Yuen2017 G

PCNX1

3-0607-001

chr14:
71451241-71451243

TTA

CTG

intronic

De novo

-

Trost2022 G

PCNX1

3-0607-001

chr14:
71451261-71451261

G

A

intronic

De novo

-

Trost2022 G

PCNX1

2-1294-004

chr14:
71451194-71451198

TCTGA

CCCAG

intronic

De novo

-

Trost2022 G

PCNX1

13222.p1

chr14:
71555929-71555929

A

G

exonic

De novo

nonsynonymous SNV

NM_001308160
NM_014982

c.A5126G
c.A5459G

p.Y1709C
p.Y1820C

24.7

2.485E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Wilfert2021 G
Zhou2022 GE

PCNX1

2-1481-003

chr14:
71451194-71451198

TCTGA

CCCAG

intronic

De novo

-

Trost2022 G

PCNX1

7-0395-003

chr14:
71434781-71434781

C

T

intronic

De novo

-

Trost2022 G

PCNX1

5-5177-003

chr14:
71447104-71447108

CAATT

C

intronic

De novo

-

Trost2022 G

PCNX1

MSSNG00040-004

chr14:
71389602-71389602

T

C

intronic

De novo

-

Trost2022 G

PCNX1

2-1625-003

chr14:
71410792-71410794

AGG

A

intronic

De novo

-

Trost2022 G

PCNX1

5-0009-003

chr14:
71798437-71798437

T

G

intergenic

De novo

-

Trost2022 G

PCNX1

7-0266-003

chr14:
71802969-71802969

G

A

intergenic

De novo

-

Trost2022 G

PCNX1

AU1848302

chr14:
71555924-71555924

C

A

exonic

De novo

nonsynonymous SNV

NM_001308160
NM_014982

c.C5121A
c.C5454A

p.F1707L
p.F1818L

29.5

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

PCNX1

AU3849302

chr14:
71855338-71855338

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PCNX1

2-0088-003

chr14:
71521715-71521715

C

G

intronic

De novo

-

Trost2022 G

PCNX1

MSSNG00038-004

chr14:
71571760-71571760

G

C

intronic

De novo

-

Trost2022 G

PCNX1

MSSNG00116-003

chr14:
71488599-71488599

T

C

intronic

De novo

-

Trost2022 G

PCNX1

AU058103

chr14:
71423424-71423424

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX1

SJD_50.3

chr14:
71492078-71492078

A

G

intronic

De novo

-

Trost2022 G

PCNX1

4-0010-003

chr14:
71451267-71451267

C

T

intronic

De novo

-

Trost2022 G

PCNX1

1-0291-003

chr14:
71458883-71458883

A

C

intronic

De novo

-

Trost2022 G

PCNX1

2-1315-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PCNX1

7-0189-003

chr14:
71831511-71831511

G

A

intergenic

De novo

-

Trost2022 G

PCNX1

MSSNG00445-003

chr14:
71841579-71841579

A

G

intergenic

De novo

-

Trost2022 G

PCNX1

1-0912-003

chr14:
71760144-71760144

C

T

intergenic

De novo

-

Yuen2017 G

PCNX1

2-0006-004

chr14:
71451261-71451261

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX1

2-1093-003

chr14:
71631061-71631061

C

T

intergenic

De novo

-

Yuen2017 G

PCNX1

P1264

chr14:
71555961-71555961

C

T

exonic

De novo

nonsynonymous SNV

NM_001308160
NM_014982

c.C5158T
c.C5491T

p.R1720C
p.R1831C

34.0

-

Hashimoto2016 E

PCNX1

5022

chr14:
71555929-71555929

A

G

exonic

De novo

nonsynonymous SNV

NM_001308160
NM_014982

c.A5126G
c.A5459G

p.Y1709C
p.Y1820C

24.7

2.485E-5

Fu2022 E

PCNX1

1-0632-003

chr14:
71754209-71754209

A

C

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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