Variant Results

or

Results for "CACNA2D1"

Variant Events: 87

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

CACNA2D1

13769.p1

chr7:
81662204-81662204

C

G

exonic

De novo

nonsynonymous SNV

NM_000722

c.G1052C

p.R351T

26.8

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

CACNA2D1

2-0144-004

chr7:
81753573-81753573

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

AU3702307

chr7:
82251460-82251460

T

C

intergenic

De novo

-

Yuen2017 G

CACNA2D1

A16

chr7:
82193119-82193119

C

T

intergenic

De novo

-

Wu2018 G

CACNA2D1

1-0274-003

chr7:
81812807-81812807

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

AU045514

chr7:
82329893-82329893

G

A

intergenic

De novo

-

Yuen2017 G

CACNA2D1

7-0253-004

chr7:
81725784-81725784

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

AU2310301

chr7:
81612703-81612703

A

C

intronic

De novo

-

Trost2022 G

CACNA2D1

4-0062-003

chr7:
81631542-81631543

TT

AA

intronic

De novo

-

Trost2022 G

CACNA2D1

AU038703

chr7:
82182124-82182124

T

C

intergenic

De novo

-

Yuen2017 G

CACNA2D1

SP0008469

chr7:
81612686-81612687

CA

C

intronic

De novo

-

0.0699

Trost2022 G

CACNA2D1

SP0013957

chr7:
81612686-81612687

CA

C

intronic

De novo

-

0.0699

Trost2022 G

CACNA2D1

1-0990-003

chr7:
82355021-82355021

A

G

intergenic

De novo

-

Yuen2017 G

CACNA2D1

SP0026256

chr7:
81598291-81598292

TA

T

intronic

De novo

-

0.0057

Trost2022 G

CACNA2D1

MT_22.3

chr7:
81705176-81705176

A

C

intronic

De novo

-

Trost2022 G

CACNA2D1

1-0599-005

chr7:
81722140-81722143

AAAC

A

intronic

De novo

-

Trost2022 G

CACNA2D1

10C116198

chr7:
81799915-81799915

A

C

exonic

De novo

nonsynonymous SNV

NM_000722
NM_001302890

c.T305G
c.T305G

p.L102W
p.L102W

15.54

-

Lim2017 E

CACNA2D1

SP0119755

chr7:
81589047-81589047

G

A

exonic

De novo

nonsynonymous SNV

NM_000722

c.C3065T

p.A1022V

14.93

3.431E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

CACNA2D1

3-0338-000

chr7:
81700783-81700783

G

A

intronic

De novo

-

Trost2022 G

CACNA2D1

AU3517301

chr7:
81689790-81689791

TC

T

exonic

De novo

frameshift deletion

NM_000722
NM_001302890

c.832delG
c.832delG

p.E278fs
p.E278fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CACNA2D1

5-0114-003

chr7:
81636446-81636446

A

T

intronic

De novo

-

Trost2022 G

CACNA2D1

3-0630-000

chr7:
81633477-81633479

TAA

T

intronic

De novo

-

Trost2022 G

CACNA2D1

AU059003

chr7:
81634176-81634176

T

C

intronic

De novo

-

Trost2022 G

CACNA2D1

4-0062-003

chr7:
81831591-81831591

G

A

intronic

De novo

-

Trost2022 G

CACNA2D1

3-0072-000

chr7:
81856499-81856499

C

A

intronic

De novo

-

Trost2022 G

CACNA2D1

2-1525-003

chr7:
81699940-81699940

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

MSSNG00129-003

chr7:
81778679-81778679

G

A

intronic

De novo

-

Trost2022 G

CACNA2D1

AU3918302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

MSSNG00422-004

chr7:
81816807-81816807

T

C

intronic

De novo

-

Trost2022 G

CACNA2D1

MT_155.3

chr7:
81769927-81769930

TCAC

T

intronic

De novo

-

Trost2022 G

CACNA2D1

13769_p1

chr7:
81662204-81662204

C

G

exonic

De novo

nonsynonymous SNV

NM_000722

c.G1052C

p.R351T

26.8

-

Fu2022 E

CACNA2D1

SP0089847

chr7:
81667352-81667352

T

C

intronic

De novo

-

1.652E-5

Fu2022 E

CACNA2D1

AU2162302

chr7:
81775769-81775769

G

T

intronic

De novo

-

Trost2022 G

CACNA2D1

7-0478-003

chr7:
81744230-81744230

T

C

intronic

De novo

-

Trost2022 G

CACNA2D1

AU046506

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

CACNA2D1

2-1528-003

chr7:
82008693-82008693

A

G

intronic

De novo

-

Trost2022 G

CACNA2D1

REACH000727

chr7:
82011077-82011077

C

T

intronic

De novo

-

Trost2022 G

CACNA2D1

MT_26.3

chr7:
81932535-81932535

T

G

intronic

De novo

-

Trost2022 G

CACNA2D1

2-1540-003

chr7:
82007448-82007448

G

A

intronic

De novo

-

Trost2022 G

CACNA2D1

7-0104-003

chr7:
81775247-81775247

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

REACH000520

chr7:
81913995-81913995

C

T

intronic

De novo

-

Trost2022 G

CACNA2D1

AU3911302

chr7:
81922179-81922191

CTATATACAAATA

C

intronic

De novo

-

Trost2022 G

CACNA2D1

2-1509-003

chr7:
81868059-81868059

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

2-1430-003A

chr7:
81859897-81859897

C

T

intronic

De novo

-

Trost2022 G

CACNA2D1

AUTPGX_1020

chr7:
81870530-81870530

C

T

intronic

De novo

-

Trost2022 G

CACNA2D1

MSSNG00364-004

chr7:
82072906-82072906

G

A

UTR5

De novo

-

Trost2022 G

CACNA2D1

2-0110-003

chr7:
82121617-82121617

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CACNA2D1

2-1430-003

chr7:
81859897-81859897

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CACNA2D1

AU3724301

chr7:
81800598-81800598

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

SP0038165

chr7:
81589018-81589018

T

G

intronic

De novo

-

Fu2022 E

CACNA2D1

2-0003-003

chr7:
81918992-81918992

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

1-0052-003

chr7:
82085961-82085961

C

T

intergenic

De novo

-

Yuen2017 G

CACNA2D1

AU3839303

chr7:
82058696-82058696

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

AU3368303

chr7:
81706706-81706706

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

1-0652-004

chr7:
81718467-81718467

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

AU4372309

chr7:
81812129-81812129

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

AU3918301

chr7:
82177066-82177066

T

C

intergenic

De novo

-

Yuen2017 G

CACNA2D1

1-0043-003

chr7:
82300886-82300886

A

T

intergenic

De novo

-

Yuen2017 G

CACNA2D1

1-0986-003

chr7:
82058267-82058267

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

AU0039303

chr7:
81800638-81800638

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

1-0206-004

chr7:
81587419-81587419

G

GA

intronic

De novo

-

Yuen2017 G

CACNA2D1

2-1346-003

chr7:
82187064-82187064

A

T

intergenic

De novo

-

Yuen2017 G

CACNA2D1

1675002

chr7:
81612686-81612686

C

A

intronic

De novo

-

7.0E-4

Satterstrom2020 E
Trost2022 G

CACNA2D1

2-1441-003

chr7:
81674361-81674361

T

A

intronic

De novo

-

Yuen2016 G

CACNA2D1

1-0158-012

chr7:
81581365-81581372

ATTGTGGT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

1-0225-003

chr7:
82259776-82259781

TATACA

TA

intergenic

De novo

-

Yuen2017 G

CACNA2D1

SSC09307

chr7:
81662204-81662204

C

G

exonic

nonsynonymous SNV

NM_000722

c.G1052C

p.R351T

26.8

-

Antaki2022 GE

CACNA2D1

AU3779304

chr7:
81876203-81876203

C

T

intronic

De novo

-

Yuen2017 G

CACNA2D1

2-1169-004

chr7:
81622920-81622920

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

Viggiano2022:54.3

chr7:
81596917-81596917

C

G

exonic

Maternal

nonsynonymous SNV

NM_000722

c.G2458C

p.D820H

12.24

-

Viggiano2022 GT

CACNA2D1

2-0022-004

chr7:
82270310-82270310

A

G

intergenic

De novo

-

Yuen2017 G

CACNA2D1

1-0486-003

chr7:
81919649-81919649

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

AU3760301

chr7:
81865967-81865967

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

1-0486-003

chr7:
81696750-81696750

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

2-1297-004

chr7:
81848093-81848093

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

1-0274-004

chr7:
81812807-81812807

A

G

intronic

De novo

-

Yuen2017 G

CACNA2D1

2-1720-003

chr7:
81896358-81896358

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

5-0018-003

chr7:
81999172-81999172

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

AU1223303

chr7:
81790234-81790234

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

5-0018-003

chr7:
81999471-81999471

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

AU2756306

chr7:
81917909-81917909

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

AU4314302

chr7:
81587867-81587867

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

DEASD_0219_001

chr7:
81635200-81635200

C

T

intronic

De novo

-

1.668E-5

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

CACNA2D1

3-0185-000

chr7:
82131032-82131032

C

G

intergenic

De novo

-

Yuen2017 G

CACNA2D1

5-0040-003

chr7:
81910801-81910801

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

1-0296-004

chr7:
81778679-81778679

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA2D1

2-0289-003

chr7:
81876039-81876039

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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