Variant Results

or

or

Results for "PDZRN3"

Variant Events: 24

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

PDZRN3

2-1292-004

chr3:
73557946-73557946

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PDZRN3

08C72349

chr3:
73432600-73432600

C

A

exonic

De novo

synonymous SNV

NM_001303139
NM_001303140
NM_001303141
NM_001303142
NM_015009

c.G2211T
c.G2088T
c.G2283T
c.G2268T
c.G3117T

p.T737T
p.T696T
p.T761T
p.T756T
p.T1039T

0.009

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PDZRN3

5-0083-003

chr3:
73649594-73649594

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PDZRN3

1-0261-003

chr3:
73454398-73454398

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PDZRN3

2-1366-004

chr3:
73446240-73446240

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PDZRN3

A13

chr3:
73549493-73549493

C

A

intronic

De novo

-

-

Wu2018 G

PDZRN3

2-1220-003

chr3:
73459394-73459394

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PDZRN3

MSSNG00067-003

chr3:
73491385-73491386

AG

A

intronic

De novo

-

-

Trost2022 G

PDZRN3

2-1090-003

chr3:
73501425-73501425

G

A

intronic

De novo

-

-

Trost2022 G

PDZRN3

DEASD_0341_001

chr3:
73450062-73450062

G

A

intronic

De novo

-

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

PDZRN3

2-1347-003

chr3:
73481534-73481534

A

ACTTGTG

intronic

De novo

-

-

Trost2022 G

PDZRN3

AU4033303

chr3:
73555632-73555632

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PDZRN3

SP0089806

chr3:
73483025-73483025

C

T

UTR5

De novo

-

-

Trost2022 G

PDZRN3

3-0393-000

chr3:
73442280-73442280

C

T

intronic

De novo

-

-

Trost2022 G

PDZRN3

MSSNG00043-004A

chr3:
73666110-73666110

C

G

intronic

De novo

-

-

Trost2022 G

PDZRN3

SP0152992

chr3:
73673351-73673351

A

C

exonic

De novo

nonsynonymous SNV

NM_015009

c.T626G

p.L209R

24.6

-

Trost2022 G

PDZRN3

AU4054301

chr3:
73626690-73626690

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PDZRN3

MT_12.3

chr3:
73644579-73644579

T

C

intronic

De novo

-

-

Trost2022 G

PDZRN3

REACH000229

chr3:
73654690-73654690

A

T

intronic

De novo

-

-

Trost2022 G

PDZRN3

2-1723-003

chr3:
73556325-73556325

A

AT

intronic

De novo

-

-

Trost2022 G

PDZRN3

14153.p1

chr3:
73466992-73466992

T

C

intronic

De novo

-

-

Turner2016 G

PDZRN3

4-0095-003

chr3:
73525969-73525969

G

A

intronic

De novo

-

-

Trost2022 G

PDZRN3

2-1290-004

chr3:
73555173-73555173

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PDZRN3

MSSNG00352-003

chr3:
73541464-73541464

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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