Variant Results

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Results for "PXDN"

Variant Events: 15

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

PXDN

A18

chr2:
1687482-1687482

C

T

exonic

De novo

nonsynonymous SNV

NM_012293

c.G506A

p.R169Q

22.0

Wu2018 G

PXDN

SSC06985

chr2:
1658190-1658190

C

T

exonic

De novo

nonsynonymous SNV

NM_012293

c.G1928A

p.R643Q

19.98

-

Fu2022 E
Lim2017 E

PXDN

Li2017:17618

chr2:
1657483-1657483

C

A

exonic

Unknown

nonsynonymous SNV

NM_012293

c.G2021T

p.R674L

19.23

-

Li2017 T

PXDN

Li2017:17640

chr2:
1691444-1691444

C

A

exonic

Unknown

nonsynonymous SNV

NM_012293

c.G376T

p.D126Y

32.0

-

Li2017 T

PXDN

Li2017:15061

chr2:
1653217-1653217

G

A

exonic

Unknown

nonsynonymous SNV

NM_012293

c.C2335T

p.R779W

15.23

Li2017 T

PXDN

iHART1374

chr2:
1664811-1664811

T

G

splicing

Maternal

splicing

13.98

-

Ruzzo2019 G

PXDN

iHART1375

chr2:
1664811-1664811

T

G

splicing

Maternal

splicing

13.98

-

Ruzzo2019 G

PXDN

1-0652-003

chr2:
1700857-1700857

C

T

intronic

De novo

-

-

Yuen2017 G

PXDN

13187.p1

chr2:
1658190-1658190

C

T

exonic

De novo

nonsynonymous SNV

NM_012293

c.G1928A

p.R643Q

19.98

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

PXDN

5-0050-004

chr2:
1755500-1755500

C

CTTGTTAGAG

intergenic

De novo

-

-

Yuen2017 G

PXDN

1-0346-004

chr2:
1789085-1789085

C

T

intergenic

De novo

-

-

Yuen2017 G

PXDN

SP0063208

chr2:
1652350-1652350

C

T

exonic

De novo

nonsynonymous SNV

NM_012293

c.G3202A

p.A1068T

21.3

-

Fu2022 E

PXDN

2-1166-003

chr2:
1769477-1769477

C

A

intergenic

De novo

-

-

Yuen2017 G

PXDN

AU072905

chr2:
1785462-1785462

C

T

intergenic

De novo

-

-

Yuen2017 G

PXDN

08C77921

chr2:
1677381-1677381

G

A

intronic

De novo

-

-

Satterstrom2020 E

Source Variant Information

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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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