Variant Results

or

Results for "PXDNL"

Variant Events: 64

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

PXDNL

MSSNG00127-003

chr8:
52258446-52258446

A

G

exonic

De novo

synonymous SNV

NM_144651

c.T3963C

p.A1321A

4.004

-

Trost2022 G
Zhou2022 GE

PXDNL

13867.p1

chr8:
52232506-52232506

C

T

exonic

De novo

nonsynonymous SNV

NM_144651

c.G4337A

p.C1446Y

13.15

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PXDNL

2-1283-003

chr8:
52343837-52343837

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PXDNL

11841.p1

chr8:
52320634-52320634

G

A

exonic

De novo

synonymous SNV

NM_144651

c.C3550T

p.L1184L

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

PXDNL

SP0100281

chr8:
52505218-52505218

C

A

exonic

De novo

nonsynonymous SNV

NM_144651

c.G277T

p.A93S

12.63

-

Trost2022 G
Zhou2022 GE

PXDNL

12204.p1

chr8:
52567360-52567367

GACTGCAT

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E

PXDNL

13018.p1

chr8:
52321129-52321129

G

A

exonic

nonsynonymous SNV

NM_144651

c.C3055T

p.P1019S

16.56

-

Zhou2022 GE

PXDNL

mAGRE4013

chr8:
52412308-52412308

C

A

exonic

Paternal

stopgain

NM_144651

c.G403T

p.E135X

18.47

-

Cirnigliaro2023 G

PXDNL

mAGRE2430

chr8:
52370199-52370199

G

A

exonic

Maternal

stopgain

NM_144651

c.C841T

p.R281X

33.0

1.658E-5

Cirnigliaro2023 G

PXDNL

mAGRE5225

chr8:
52339252-52339253

GA

G

exonic

Paternal

frameshift deletion

NM_144651

c.1591delT

p.S531fs

-

1.407E-5

Cirnigliaro2023 G

PXDNL

mAGRE5224

chr8:
52339252-52339253

GA

G

exonic

Paternal

frameshift deletion

NM_144651

c.1591delT

p.S531fs

-

1.407E-5

Cirnigliaro2023 G

PXDNL

mAGRE2978

chr8:
52321615-52321615

C

CG

exonic

Maternal

frameshift insertion

NM_144651

c.2568dupC

p.A857fs

-

Cirnigliaro2023 G

PXDNL

DEASD_0444_001

chr8:
52359655-52359655

T

C

exonic

De novo

synonymous SNV

NM_144651

c.A1434G

p.A478A

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PXDNL

AU064A

chr8:
52366170-52366170

C

T

exonic

De novo

synonymous SNV

NM_144651

c.G1158A

p.Q386Q

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PXDNL

1-0541-003

chr8:
52609237-52609237

A

AGG

intronic

De novo

-

Yuen2017 G

PXDNL

2-0057-003

chr8:
52609237-52609237

A

AGG

intronic

De novo

-

Yuen2017 G

PXDNL

IGM1648671

chr8:
52321486-52321486

A

C

exonic

De novo

nonsynonymous SNV

NM_144651

c.T2698G

p.Y900D

11.76

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PXDNL

2-1442-003

chr8:
52239817-52239817

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PXDNL

AU3862305

chr8:
52575335-52575335

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PXDNL

1-0559-003

chr8:
52609349-52609349

A

AGG

intronic

De novo

-

Yuen2017 G

PXDNL

Cukier2014:37674

chr8:
52284560-52284560

A

T

exonic

Unknown

stopgain

NM_144651

c.T3774A

p.C1258X

40.0

0.0188

Cukier2014 E

PXDNL

1-0067-005

chr8:
52490718-52490718

G

GAAAGAA

intronic

De novo

-

Yuen2017 G

PXDNL

1-0323-003

chr8:
52628037-52628037

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PXDNL

AU2793303

chr8:
52355353-52355353

C

T

intronic

De novo

-

Yuen2017 G

PXDNL

1-0354-006

chr8:
52442723-52442723

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PXDNL

2-1132-003

chr8:
52520257-52520257

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PXDNL

2-0319-004

chr8:
52609271-52609271

A

ACC

intronic

De novo

-

Yuen2017 G

PXDNL

7-0082-003

chr8:
52609308-52609308

C

CACACAGGT

intronic

De novo

-

Yuen2017 G

PXDNL

1-1134-004

chr8:
52368195-52368195

T

C

intronic

De novo

-

Trost2022 G

PXDNL

2-1288-003

chr8:
52384375-52384375

T

C

intronic

De novo

-

Trost2022 G

PXDNL

2-1552-003

chr8:
52360268-52360268

T

C

intronic

De novo

-

Trost2022 G

PXDNL

7-0365-003

chr8:
52362368-52362368

C

G

intronic

De novo

-

Trost2022 G

PXDNL

AU3175303

chr8:
52236357-52236357

T

G

intronic

De novo

-

Trost2022 G

PXDNL

AU1795301

chr8:
52513256-52513258

CTT

C

intronic

De novo

-

Yuen2017 G

PXDNL

3-0781-000

chr8:
52347969-52347969

A

C

intronic

De novo

-

Trost2022 G

PXDNL

2-1283-004

chr8:
52343837-52343837

C

T

intronic

De novo

-

Yuen2017 G

PXDNL

MT_161.3

chr8:
52451627-52451627

G

T

intronic

De novo

-

Trost2022 G

PXDNL

1-0882-003

chr8:
52512977-52512977

C

G

intronic

De novo

-

Trost2022 G

PXDNL

1-1126-003

chr8:
52441929-52441929

G

C

intronic

De novo

-

Trost2022 G

PXDNL

AU055603

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

PXDNL

AU4234303

chr8:
52247685-52247685

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PXDNL

236-11-114142

chr8:
52567208-52567208

T

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

PXDNL

3-0058-000

chr8:
52421000-52421000

T

G

intronic

De novo

-

Trost2022 G

PXDNL

REACH000514

chr8:
52429126-52429126

T

C

intronic

De novo

-

Trost2022 G

PXDNL

5-5130-003

chr8:
52393091-52393091

C

T

intronic

De novo

-

Trost2022 G

PXDNL

5-0019-003

chr8:
52414062-52414062

G

A

intronic

De novo

-

Trost2022 G

PXDNL

2-1738-003

chr8:
52531904-52531904

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PXDNL

AU3881301

chr8:
52669808-52669808

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PXDNL

70272

chr8:
52320634-52320634

G

A

exonic

De novo

synonymous SNV

NM_144651

c.C3550T

p.L1184L

-

Fu2022 E
Trost2022 G

PXDNL

1-0299-003

chr8:
52609332-52609335

GGTC

CA

intronic

De novo

-

Trost2022 G

PXDNL

TRE_2134

chr8:
52412301-52412301

A

G

exonic

De novo

nonsynonymous SNV

NM_144651

c.T410C

p.L137P

9.931

-

Fu2022 E

PXDNL

MSSNG00046-004

chr8:
52609446-52609446

C

G

intronic

De novo

-

Trost2022 G

PXDNL

MT_186.3

chr8:
52609300-52609300

C

T

intronic

De novo

-

Trost2022 G

PXDNL

5-0015-003

chr8:
52609326-52609327

TT

CACA

intronic

De novo

-

Trost2022 G

PXDNL

2-1743-004A

chr8:
52575127-52575127

T

A

intronic

De novo

-

Trost2022 G

PXDNL

MSSNG00204-003

chr8:
52607046-52607046

A

T

intronic

De novo

-

Trost2022 G

PXDNL

13867_p1

chr8:
52232506-52232506

C

T

exonic

De novo

nonsynonymous SNV

NM_144651

c.G4337A

p.C1446Y

13.15

-

Fu2022 E

PXDNL

10-0005-003

chr8:
52520246-52520246

C

CAA

intronic

De novo

-

Trost2022 G

PXDNL

MSSNG00048-003

chr8:
52547108-52547121

GAATCTGTAGATTC

G

intronic

De novo

-

Trost2022 G

PXDNL

1-0359-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

PXDNL

4-0062-003

chr8:
52681037-52681038

CA

AT

intronic

De novo

-

Trost2022 G

PXDNL

iHART2978

chr8:
52321615-52321615

C

CG

exonic

Maternal

frameshift insertion

NM_144651

c.2568dupC

p.A857fs

-

Ruzzo2019 G

PXDNL

1-0191-003

chr8:
52503346-52503346

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PXDNL

1-0045-004

chr8:
52280226-52280226

G

A

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
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