Variant Results

or

Results for "PARD3"

Variant Events: 78

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

PARD3

AU3911301

chr10:
34952286-34952286

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

AU3951301

chr10:
34867149-34867149

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

AU4159302

chr10:
34635430-34635430

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

AU073006

chr10:
34923684-34923684

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

2-0300-003

chr10:
34985485-34985485

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

AU4264302

chr10:
34493334-34493334

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

1-0835-003

chr10:
34993899-34993899

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

SP0066059

chr10:
34671557-34671557

G

A

exonic

De novo

nonsynonymous SNV

NM_001184790
NM_001184791
NM_001184785
NM_001184786
NM_001184787
NM_001184788
NM_001184789
NM_001184792
NM_001184793
NM_001184794
NM_019619

c.C1178T
c.C1178T
c.C1310T
c.C1310T
c.C1310T
c.C1310T
c.C1310T
c.C1310T
c.C1310T
c.C1310T
c.C1310T

p.S393L
p.S393L
p.S437L
p.S437L
p.S437L
p.S437L
p.S437L
p.S437L
p.S437L
p.S437L
p.S437L

8.262

1.648E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

PARD3

2-0210-005

chr10:
34671556-34671556

C

T

exonic

De novo

synonymous SNV

NM_001184790
NM_001184791
NM_001184785
NM_001184786
NM_001184787
NM_001184788
NM_001184789
NM_001184792
NM_001184793
NM_001184794
NM_019619

c.G1179A
c.G1179A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A

p.S393S
p.S393S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S

-

2.471E-5

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

PARD3

2-0129-004

chr10:
34864657-34864659

CTA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

SP0046169

chr10:
34625190-34625190

A

T

intronic

De novo

-

Fu2022 E

PARD3

2-1254-003

chr10:
35081951-35081951

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PARD3

SP0028902

chr10:
34558679-34558679

C

T

exonic

De novo

nonsynonymous SNV

NM_001184791
NM_001184789
NM_001184790
NM_001184786
NM_001184787
NM_001184788
NM_001184785
NM_019619

c.G2998A
c.G3085A
c.G3064A
c.G3286A
c.G3223A
c.G3196A
c.G3325A
c.G3334A

p.A1000T
p.A1029T
p.A1022T
p.A1096T
p.A1075T
p.A1066T
p.A1109T
p.A1112T

10.16

8.256E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

PARD3

AU3702306

chr10:
34433011-34433011

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

MSSNG00375-003

chr10:
34399605-34399605

C

T

UTR3

De novo

-

Trost2022 G

PARD3

2-1715-004

chr10:
34544183-34544183

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

1-0181-004

chr10:
34620831-34620831

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

1-0107-003

chr10:
34491449-34491449

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PARD3

MSSNG00337-003

chr10:
34512750-34512750

A

G

intronic

De novo

-

Trost2022 G

PARD3

mAGRE4554

chr10:
34661425-34661425

C

A

splicing

Maternal

splicing

19.94

8.251E-6

Cirnigliaro2023 G

PARD3

7-0295-003

chr10:
34533575-34533575

T

C

intronic

De novo

-

Trost2022 G

PARD3

mAGRE4553

chr10:
34661425-34661425

C

A

splicing

Maternal

splicing

19.94

8.251E-6

Cirnigliaro2023 G

PARD3

2-0309-004

chr10:
34426345-34426345

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

MT_73.3

chr10:
34505022-34505022

A

G

intronic

De novo

-

Trost2022 G

PARD3

AU3636302

chr10:
34573160-34573160

G

A

exonic

Paternal

stopgain

NM_001184790
NM_001184786
NM_001184788
NM_001184785
NM_019619

c.C2818T
c.C3040T
c.C2950T
c.C3079T
c.C3088T

p.R940X
p.R1014X
p.R984X
p.R1027X
p.R1030X

44.0

1.65E-5

Cirnigliaro2023 G

PARD3

REACH000141

chr10:
34506536-34506536

T

C

intronic

De novo

-

Trost2022 G

PARD3

AU3636301

chr10:
34573160-34573160

G

A

exonic

Paternal

stopgain

NM_001184790
NM_001184786
NM_001184788
NM_001184785
NM_019619

c.C2818T
c.C3040T
c.C2950T
c.C3079T
c.C3088T

p.R940X
p.R1014X
p.R984X
p.R1027X
p.R1030X

44.0

1.65E-5

Cirnigliaro2023 G

PARD3

MSSNG00423-003

chr10:
34454521-34454521

A

G

intronic

De novo

-

Trost2022 G

PARD3

MSSNG00383-003

chr10:
34477598-34477598

A

G

intronic

De novo

-

Trost2022 G

PARD3

MSSNG00222-003

chr10:
34441020-34441020

G

A

intronic

De novo

-

Trost2022 G

PARD3

AU055603

chr10:
34450066-34450066

G

T

intronic

De novo

-

Trost2022 G

PARD3

REACH000419

chr10:
34591303-34591304

AT

A

intronic

De novo

-

Trost2022 G

PARD3

MSSNG00028-004

chr10:
34596886-34596886

G

C

intronic

De novo

-

Trost2022 G

PARD3

MSSNG00035-004

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

PARD3

5-1042-003

chr10:
34589631-34589631

A

G

intronic

De novo

-

Trost2022 G

PARD3

2-1456-004

chr10:
34550600-34550600

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

3-0151-000

chr10:
34561170-34561170

C

T

intronic

De novo

-

Trost2022 G

PARD3

1-0323-003

chr10:
34571039-34571040

AA

GG

intronic

De novo

-

Trost2022 G

PARD3

2-1519-006

chr10:
34545664-34545671

TTCAGTTT

AAAAAAAA

intronic

De novo

-

Trost2022 G

PARD3

3-0719-001

chr10:
34554049-34554049

T

G

intronic

De novo

-

Trost2022 G

PARD3

MSSNG00109-004

chr10:
34756982-34756982

G

A

intronic

De novo

-

Trost2022 G

PARD3

2-1751-003

chr10:
34766578-34766578

T

G

intronic

De novo

-

Trost2022 G

PARD3

AU4093304

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

PARD3

5-5020-003

chr10:
34744422-34744422

T

A

intronic

De novo

-

Trost2022 G

PARD3

SP0190153

chr10:
34633208-34633208

G

T

intronic

De novo

-

Trost2022 G

PARD3

3-0339-000

chr10:
34690262-34690262

T

C

intronic

De novo

-

Trost2022 G

PARD3

2-1638-003

chr10:
34597800-34597800

G

A

intronic

De novo

-

Trost2022 G

PARD3

2-0318-004

chr10:
34963682-34963682

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

AU2320301

chr10:
34609106-34609106

A

T

intronic

De novo

-

Trost2022 G

PARD3

4-0017-003

chr10:
34959419-34959420

CA

C

intronic

De novo

-

Trost2022 G

PARD3

MSSNG00213-003

chr10:
34964812-34964812

A

G

intronic

De novo

-

Trost2022 G

PARD3

1-0568-003

chr10:
34918678-34918679

AC

TT

intronic

De novo

-

Trost2022 G

PARD3

5-0012-003

chr10:
34943739-34943739

C

T

intronic

De novo

-

Trost2022 G

PARD3

14323_p1

chr10:
34661419-34661419

C

T

intronic

De novo

-

Fu2022 E

PARD3

3-0056-000

chr10:
34896931-34896931

T

C

intronic

De novo

-

Trost2022 G

PARD3

5-0061-003

chr10:
34912733-34912733

C

CCCTGACTCTACTAAAAATACAT

intronic

De novo

-

Trost2022 G

PARD3

MSSNG00376-003

chr10:
34805135-34805135

C

T

intronic

De novo

-

Trost2022 G

PARD3

MSSNG00396-003

chr10:
34848255-34848255

G

A

intronic

De novo

-

Trost2022 G

PARD3

2-1452-003

chr10:
34755087-34755087

C

A

intronic

De novo

-

Yuen2016 G

PARD3

1-0264-005

chr10:
35061168-35061168

T

C

intronic

De novo

-

Trost2022 G

PARD3

14323.p1

chr10:
34661419-34661419

C

T

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PARD3

2-1798-003

chr10:
34990581-34990581

G

C

intronic

De novo

-

Trost2022 G

PARD3

AU3451301

chr10:
35098142-35098142

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

AU3866301

chr10:
34650332-34650332

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

14-613

chr10:
35007870-35007870

G

T

intronic

De novo

-

Trost2022 G

PARD3

1-0928-003

chr10:
34969974-34969974

T

C

intronic

De novo

-

Trost2022 G

PARD3

5-0088-003

chr10:
34951637-34951637

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

7-0379-003

chr10:
34979398-34979398

T

C

intronic

De novo

-

Trost2022 G

PARD3

AU4269301

chr10:
34780252-34780252

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3

3-0111-000

chr10:
34869712-34869712

G

A

intronic

De novo

-

Yuen2016 G

PARD3

2-1427-003

chr10:
35084860-35084860

T

G

intronic

De novo

-

Yuen2017 G

PARD3

AU4356302

chr10:
34485540-34485540

C

T

intronic

De novo

-

Yuen2017 G

PARD3

1-0213-004

chr10:
34539079-34539080

CC

CCGC

intronic

De novo

-

Yuen2017 G

PARD3

2-1409-003

chr10:
34902327-34902327

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PARD3

SP0016173

chr10:
34671599-34671599

T

C

exonic

nonsynonymous SNV

NM_001184790
NM_001184791
NM_001184785
NM_001184786
NM_001184787
NM_001184788
NM_001184789
NM_001184792
NM_001184793
NM_001184794
NM_019619

c.A1136G
c.A1136G
c.A1268G
c.A1268G
c.A1268G
c.A1268G
c.A1268G
c.A1268G
c.A1268G
c.A1268G
c.A1268G

p.H379R
p.H379R
p.H423R
p.H423R
p.H423R
p.H423R
p.H423R
p.H423R
p.H423R
p.H423R
p.H423R

15.08

-

Zhou2022 GE

PARD3

2-1738-003

chr10:
34975681-34975681

A

G

intronic

De novo

-

Yuen2017 G

PARD3

SMHC02047s000

chr10:
34673177-34673177

A

T

exonic

De novo

nonsynonymous SNV

NM_001184790
NM_001184791
NM_001184785
NM_001184786
NM_001184787
NM_001184788
NM_001184789
NM_001184792
NM_001184793
NM_001184794
NM_019619

c.T764A
c.T764A
c.T896A
c.T896A
c.T896A
c.T896A
c.T896A
c.T896A
c.T896A
c.T896A
c.T896A

p.L255Q
p.L255Q
p.L299Q
p.L299Q
p.L299Q
p.L299Q
p.L299Q
p.L299Q
p.L299Q
p.L299Q
p.L299Q

15.26

-

Yuan2023 E

PARD3

5-0123-003

chr10:
34783191-34783191

A

T

intronic

De novo

-

Trost2022 G
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
	More