Variant Results

or

Results for "DIS3L2"

Variant Events: 43

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

DIS3L2

2-1166-003

chr2:
233151935-233151935

A

G

intronic

De novo

-

Yuen2017 G

DIS3L2

2-1485-004

chr2:
232967708-232967713

TTTGAG

T

intronic

De novo

-

Yuen2017 G

DIS3L2

1-0344-003

chr2:
233150072-233150072

C

A

intronic

De novo

-

Yuen2017 G

DIS3L2

AU4093302

chr2:
233143600-233143600

A

G

intronic

De novo

-

Yuen2017 G

DIS3L2

1-0059-003

chr2:
232901849-232901849

C

T

intronic

De novo

-

Yuen2017 G

DIS3L2

1-0486-003

chr2:
233208191-233208191

G

A

exonic

De novo

nonsynonymous SNV

NM_001257281

c.G1718A

p.R573Q

5.93

-

Yuen2017 G

DIS3L2

1-0206-004

chr2:
233208123-233208123

A

AGGG

exonic

De novo

nonframeshift insertion

NM_001257281

c.1650_1651insGGG

p.E550delinsEG

-

0.003

Yuen2017 G

DIS3L2

AU4269301

chr2:
232835200-232835200

C

T

intronic

De novo

-

Yuen2017 G

DIS3L2

SP0024847

chr2:
233164802-233164802

A

G

exonic

De novo

nonsynonymous SNV

NM_152383

c.A1712G

p.H571R

13.21

-

Fu2022 E

DIS3L2

AU3122301

chr2:
233021336-233021336

T

G

intronic

De novo

-

Yuen2017 G

DIS3L2

11625.p1

chr2:
233103250-233103250

C

A

exonic

De novo, Mosaic

nonsynonymous SNV

NM_001257281
NM_152383

c.C1212A
c.C1212A

p.F404L
p.F404L

14.26

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

DIS3L2

1-0401-003

chr2:
232870629-232870629

G

C

intronic

De novo

-

Yuen2017 G

DIS3L2

11012.p1

chr2:
233128020-233128020

C

T

exonic

De novo

nonsynonymous SNV

NM_001257281
NM_152383

c.C1529T
c.C1529T

p.A510V
p.A510V

6.957

1.656E-5

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

DIS3L2

2-1337-003

chr2:
233236943-233236943

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DIS3L2

AU0636303

chr2:
233202332-233202332

A

G

intronic

De novo

-

Yuen2017 G

DIS3L2

AU3765302

chr2:
233026147-233026147

A

G

intronic

De novo

-

Yuen2017 G

DIS3L2

1-0043-004

chr2:
233005579-233005579

C

T

intronic

De novo

-

Yuen2017 G

DIS3L2

AU3692302

chr2:
233151634-233151634

C

T

intronic

De novo

-

Yuen2017 G

DIS3L2

Marques2022:206

chr2:
233028237-233028237

A

G

exonic

nonsynonymous SNV

NM_001257281
NM_152383

c.A1019G
c.A1019G

p.Y340C
p.Y340C

21.1

1.0E-4

Marques2022 ET

DIS3L2

5-0137-003

chr2:
232956205-232956205

A

T

intronic

De novo

-

Yuen2017 G

DIS3L2

Marques2022:205

chr2:
233001277-233001279

CCT

C

exonic

frameshift deletion

NM_001257281
NM_152383

c.799_800del
c.799_800del

p.L267fs
p.L267fs

-

Marques2022 ET

DIS3L2

Marques2022:208

chr2:
233127938-233127938

C

G

exonic

nonsynonymous SNV

NM_001257281
NM_152383

c.C1447G
c.C1447G

p.R483G
p.R483G

20.6

7.0E-4

Marques2022 ET

DIS3L2

Marques2022:207

chr2:
233127938-233127938

C

G

exonic

nonsynonymous SNV

NM_001257281
NM_152383

c.C1447G
c.C1447G

p.R483G
p.R483G

20.6

7.0E-4

Marques2022 ET

DIS3L2

1-0206-005

chr2:
233208123-233208123

A

AGGG

exonic

De novo

nonframeshift insertion

NM_001257281

c.1650_1651insGGG

p.E550delinsEG

-

0.003

Yuen2017 G

DIS3L2

Marques2022:202

chr2:
232880381-232880381

G

C

exonic

nonsynonymous SNV

NM_001257281
NM_001257282
NM_152383

c.G210C
c.G210C
c.G210C

p.Q70H
p.Q70H
p.Q70H

20.2

-

Marques2022 ET

DIS3L2

2-0068-003

chr2:
233127398-233127398

A

T

intronic

De novo

-

Yuen2017 G

DIS3L2

Marques2022:204

chr2:
232894729-232894729

G

C

exonic

nonsynonymous SNV

NM_001257281
NM_001257282
NM_152383

c.G305C
c.G305C
c.G305C

p.R102P
p.R102P
p.R102P

27.2

5.8E-5

Marques2022 ET

DIS3L2

Marques2022:203

chr2:
232889039-232889039

C

T

exonic

nonsynonymous SNV

NM_001257281
NM_001257282
NM_152383

c.C263T
c.C263T
c.C263T

p.P88L
p.P88L
p.P88L

21.6

9.0E-4

Marques2022 ET

DIS3L2

Marques2022:214

chr2:
233194645-233194645

T

C

exonic

nonsynonymous SNV

NM_152383

c.T1862C

p.L621P

21.9

8.372E-6

Marques2022 ET

DIS3L2

Marques2022:213

chr2:
233194618-233194618

C

T

exonic

nonsynonymous SNV

NM_152383

c.C1835T

p.P612L

18.35

1.683E-5

Marques2022 ET

DIS3L2

Marques2022:216

chr2:
233201302-233201302

G

T

exonic

stopgain

NM_152383

c.G2620T

p.E874X

34.0

3.594E-5

Marques2022 ET

DIS3L2

Marques2022:215

chr2:
233198613-233198613

A

T

exonic

nonsynonymous SNV

NM_152383

c.A2074T

p.N692Y

20.1

-

Marques2022 ET

DIS3L2

Marques2022:210

chr2:
233164812-233164812

G

T

exonic

nonsynonymous SNV

NM_152383

c.G1722T

p.E574D

18.18

1.0E-4

Marques2022 ET

DIS3L2

Marques2022:209

chr2:
233127939-233127939

G

A

exonic

nonsynonymous SNV

NM_001257281
NM_152383

c.G1448A
c.G1448A

p.R483Q
p.R483Q

24.0

0.0113

Marques2022 ET

DIS3L2

Marques2022:212

chr2:
233194609-233194609

G

A

exonic

nonsynonymous SNV

NM_152383

c.G1826A

p.R609Q

32.0

2.546E-5

Marques2022 ET

DIS3L2

Marques2022:211

chr2:
233194608-233194608

C

T

exonic

nonsynonymous SNV

NM_152383

c.C1825T

p.R609W

25.5

1.0E-4

Marques2022 ET

DIS3L2

2-1485-003

chr2:
232967708-232967713

TTTGAG

T

intronic

De novo

-

Yuen2017 G

DIS3L2

1-0673-003

chr2:
233007927-233007927

A

G

intronic

De novo

-

Yuen2017 G

DIS3L2

2-1089-004

chr2:
232925368-232925368

A

G

intronic

De novo

-

Yuen2017 G

DIS3L2

11012_p1

chr2:
233128020-233128020

C

T

exonic

De novo

nonsynonymous SNV

NM_001257281
NM_152383

c.C1529T
c.C1529T

p.A510V
p.A510V

6.957

1.656E-5

Fu2022 E

DIS3L2

11625_p1

chr2:
233103250-233103250

C

A

exonic

De novo

nonsynonymous SNV

NM_001257281
NM_152383

c.C1212A
c.C1212A

p.F404L
p.F404L

14.26

-

Fu2022 E

DIS3L2

AU061003

chr2:
233009796-233009796

T

A

intronic

De novo

-

Yuen2017 G

DIS3L2

74-0265

chr2:
233207809-233207809

G

A

intronic

De novo

-

Michaelson2012 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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