Variant Results

or

Results for "PCNX2"

Variant Events: 44

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

PCNX2

2-0143-004

chr1:
233411201-233411201

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX2

MSSNG00035-003

chr1:
233128614-233128614

C

T

intronic

De novo

-

Trost2022 G

PCNX2

3-0646-000

chr1:
233127044-233127044

C

T

intronic

De novo

-

Trost2022 G

PCNX2

TRE_471

chr1:
233372656-233372656

C

T

exonic

De novo

nonsynonymous SNV

NM_014801

c.G2293A

p.V765I

11.92

8.286E-6

Fu2022 E

PCNX2

5-5016-003

chr1:
233249169-233249169

C

A

intronic

De novo

-

Trost2022 G

PCNX2

2-1205-003

chr1:
233314776-233314776

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PCNX2

AU055603

chr1:
233237416-233237416

C

G

intronic

De novo

-

Trost2022 G

PCNX2

AU063004

chr1:
233348050-233348050

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX2

MSSNG00016-004

chr1:
233307351-233307352

GT

G

intronic

De novo

-

Trost2022 G

PCNX2

AU2427303

chr1:
233392009-233392009

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX2

AU2216201

chr1:
233297716-233297716

A

G

intronic

De novo

-

Trost2022 G

PCNX2

iHART3261

chr1:
233394002-233394002

C

CA

exonic

Paternal

frameshift insertion

NM_014801

c.1605dupT

p.G536fs

-

Ruzzo2019 G

PCNX2

SP0040523

chr1:
233160872-233160872

T

A

intronic

De novo

-

Fu2022 E
Trost2022 G

PCNX2

MSSNG00417-003

chr1:
233153309-233153309

G

A

intronic

De novo

-

Trost2022 G

PCNX2

2-1143-003

chr1:
233138155-233138155

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX2

5-0012-003

chr1:
233132332-233132336

CCTAT

C

intronic

De novo

-

Trost2022 G

PCNX2

MSSNG00356-004

chr1:
233204953-233204953

C

T

intronic

De novo

-

Trost2022 G

PCNX2

SP0037340

chr1:
233168780-233168780

T

C

intronic

De novo

-

Trost2022 G

PCNX2

SP0009582

chr1:
233134924-233134925

GC

G

exonic

De novo

frameshift deletion

NM_014801

c.5529delG

p.R1843fs

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PCNX2

H3E8D_01

chr1:
233421752-233421752

C

G

intronic

De novo

-

Trost2022 G

PCNX2

1-0338-003

chr1:
233259477-233259477

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX2

2-1375-003

chr1:
233400998-233400998

A

G

intronic

De novo

-

Trost2022 G

PCNX2

SP0004863

chr1:
233120044-233120044

C

T

UTR3

De novo

-

4.669E-5

Fu2022 E
Trost2022 G
Trost2022 G

PCNX2

SP0147378

chr1:
233363072-233363072

C

T

exonic

De novo

nonsynonymous SNV

NM_014801

c.G2404A

p.G802R

11.15

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PCNX2

SP0131368

chr1:
233426639-233426639

A

G

intronic

De novo

-

Trost2022 G

PCNX2

MT_186.3

chr1:
233361254-233361254

G

C

intronic

De novo

-

Trost2022 G

PCNX2

MSSNG00001-003

chr1:
233360860-233360860

A

T

intronic

De novo

-

Trost2022 G

PCNX2

1-1184-003

chr1:
233386242-233386242

G

A

intronic

De novo

-

Trost2022 G

PCNX2

REACH000616

chr1:
233373016-233373016

T

A

intronic

De novo

-

Trost2022 G

PCNX2

AU057404

chr1:
233240330-233240330

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX2

13604.p1

chr1:
233398920-233398920

G

A

intronic

De novo

-

0.001

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E

PCNX2

1-0139-005

chr1:
233145990-233145990

C

T

intronic

De novo

-

Yuen2017 G

PCNX2

041-07-107684

chr1:
233397769-233397769

A

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

PCNX2

AU4032307

chr1:
233394002-233394002

C

CA

exonic

Paternal

frameshift insertion

NM_014801

c.1605dupT

p.G536fs

-

Cirnigliaro2023 G

PCNX2

1-0265-004

chr1:
233333249-233333249

G

A

intronic

De novo

-

Yuen2017 G

PCNX2

AU4089302

chr1:
233122235-233122261

TGGCTTAGCGCTGAGTGTGCCTGCACG

T

exonic

Paternal

frameshift deletion

NM_014801

c.5817_5842del

p.S1939fs

-

Cirnigliaro2023 G

PCNX2

AU4089301

chr1:
233122235-233122261

TGGCTTAGCGCTGAGTGTGCCTGCACG

T

exonic

Paternal

frameshift deletion

NM_014801

c.5817_5842del

p.S1939fs

-

Cirnigliaro2023 G

PCNX2

2-0285-004

chr1:
233280696-233280696

T

TG

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX2

AU074403

chr1:
233140037-233140037

C

T

intronic

De novo

-

Yuen2017 G

PCNX2

1-0265-003

chr1:
233333249-233333249

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX2

7-0161-003

chr1:
233160952-233160952

G

A

exonic

De novo

synonymous SNV

NM_014801

c.C4545T

p.N1515N

-

5.795E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

PCNX2

2-0102-004

chr1:
233362984-233362984

G

A

exonic

De novo

nonsynonymous SNV

NM_014801

c.C2492T

p.A831V

32.0

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

PCNX2

1-0481-003

chr1:
233131501-233131501

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNX2

08C75652

chr1:
233314776-233314776

C

T

intronic

De novo

-

Satterstrom2020 E
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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