Variant Results

or

Results for "CACNA1D"

Variant Events: 41

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

CACNA1D

AU4237304

chr3:
53585491-53585491

C

T

intronic

De novo

-

Yuen2017 G

CACNA1D

AU046707

chr3:
53719030-53719030

T

G

intronic

De novo

-

Yuen2017 G

CACNA1D

A18

chr3:
53808675-53808675

C

T

exonic

De novo

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.C4127T
c.C4172T
c.C4232T

p.T1376M
p.T1391M
p.T1411M

31.0

-

Jiao2019 E

CACNA1D

SP0097411

chr3:
53752631-53752631

C

CCCCCCA

intronic

De novo

-

Fu2022 E

CACNA1D

SP0077132

chr3:
53766089-53766089

A

G

exonic

De novo

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.A2453G
c.A2453G
c.A2513G

p.Y818C
p.Y818C
p.Y838C

18.19

-

Fu2022 E

CACNA1D

SP0095595

chr3:
53769552-53769552

C

T

intronic

De novo

-

1.663E-5

Fu2022 E

CACNA1D

12733.p1

chr3:
53572860-53572861

AC

A

intronic

De novo

-

Werling2018 G

CACNA1D

2-1399-003

chr3:
53845029-53845029

C

G

intronic

De novo

-

Yuen2017 G

CACNA1D

2-1507-003

chr3:
53847587-53847587

C

T

intergenic

De novo

-

Yuen2017 G

CACNA1D

12439.p1

chr3:
53787575-53787575

C

T

intronic

De novo

-

2.0E-4

Satterstrom2020 E

CACNA1D

P051

chr3:
53810651-53810651

G

C

exonic

De novo

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.G4339C
c.G4384C
c.G4444C

p.V1447L
p.V1462L
p.V1482L

33.0

-

Long2019 ET

CACNA1D

2-1268-003

chr3:
53717444-53717444

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CACNA1D

Li2017:17702

chr3:
53700366-53700366

A

C

exonic

Unknown

nonsynonymous SNV

NM_000720
NM_001128839
NM_001128840

c.A920C
c.A920C
c.A920C

p.D307A
p.D307A
p.D307A

16.71

-

Li2017 T

CACNA1D

2-0300-004

chr3:
53553400-53553400

C

T

intronic

De novo

-

Yuen2017 G

CACNA1D

AU1995302

chr3:
53809090-53809090

C

T

intronic

De novo

-

Yuen2017 G

CACNA1D

Li2017:17705

chr3:
53842712-53842712

G

A

exonic

Unknown

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.G5714A
c.G5786A
c.G5846A

p.R1905H
p.R1929H
p.R1949H

36.0

8.274E-6

Li2017 T

CACNA1D

5929

chr3:
53764493-53764493

C

G

exonic

De novo

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.C2246G
c.C2246G
c.C2306G

p.A749G
p.A749G
p.A769G

31.0

-

Fu2022 E

CACNA1D

AU002406

chr3:
53752777-53752777

C

T

intronic

De novo

-

Yuen2017 G

CACNA1D

Lim2017:5910

chr3:
53752764-53752764

T

G

exonic

De novo

nonsynonymous SNV

NM_000720

c.T1534G

p.W512G

9.685

9.244E-5

Lim2017 E

CACNA1D

13324.p1

chr3:
53778345-53778345

A

G

intronic

De novo

-

Turner2016 G

CACNA1D

1-0296-004

chr3:
53813960-53813960

A

T

intronic

De novo

-

Yuen2017 G

CACNA1D

SSC07798

chr3:
53707152-53707152

G

A

exonic

De novo

nonsynonymous SNV

NM_001128839
NM_001128840

c.G1219A
c.G1219A

p.G407R
p.G407R

20.8

-

Fu2022 E
Lim2017 E

CACNA1D

Viggiano2022:54.3

chr3:
53809963-53809963

G

A

exonic

Paternal

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.G4208A
c.G4253A
c.G4313A

p.G1403E
p.G1418E
p.G1438E

20.6

-

Viggiano2022 GT

CACNA1D

Lim2017:5929

chr3:
53764493-53764493

C

G

exonic

De novo

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.C2246G
c.C2246G
c.C2306G

p.A749G
p.A749G
p.A769G

31.0

-

Lim2017 E

CACNA1D

SP0110914

chr3:
53781346-53781346

A

G

exonic

De novo

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.A3185G
c.A3185G
c.A3245G

p.Y1062C
p.Y1062C
p.Y1082C

23.9

-

Antaki2022 GE
Fu2022 E

CACNA1D

Li2017:23096

chr3:
53779862-53779862

C

T

exonic

Unknown

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.C3127T
c.C3127T
c.C3187T

p.R1043C
p.R1043C
p.R1063C

20.4

1.649E-5

Li2017 T

CACNA1D

09C83080

chr3:
53757544-53757544

G

A

exonic

De novo

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.G1750A
c.G1750A
c.G1810A

p.V584I
p.V584I
p.V604I

36.0

1.647E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

CACNA1D

Li2017:19649

chr3:
53760951-53760951

A

G

exonic

Unknown

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.A2146G
c.A2146G
c.A2206G

p.M716V
p.M716V
p.M736V

24.3

4.942E-5

Li2017 T

CACNA1D

SP0053403

chr3:
53814129-53814129

G

C

exonic

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.G4619C
c.G4664C
c.G4724C

p.R1540P
p.R1555P
p.R1575P

33.0

-

Antaki2022 GE

CACNA1D

673-05-104727

chr3:
53529164-53529164

A

C

UTR5

De novo

-

Satterstrom2020 E

CACNA1D

SP0019782

chr3:
53783426-53783426

G

T

exonic

De novo

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.G3446T
c.G3446T
c.G3506T

p.G1149V
p.G1149V
p.G1169V

27.7

-

Antaki2022 GE
Fu2022 E

CACNA1D

Uddin2014:21

chr3:
53764493-53764493

C

G

exonic

De novo

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.C2246G
c.C2246G
c.C2306G

p.A749G
p.A749G
p.A769G

31.0

-

Uddin2014 E

CACNA1D

7-0171-003

chr3:
53610071-53610071

G

A

intronic

De novo

-

Yuen2017 G

CACNA1D

12620.p1

chr3:
53707152-53707152

G

A

exonic

De novo

nonsynonymous SNV

NM_001128839
NM_001128840

c.G1219A
c.G1219A

p.G407R
p.G407R

20.8

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G

CACNA1D

Li2017:20606

chr3:
53699710-53699710

A

G

exonic

Unknown

nonsynonymous SNV

NM_000720
NM_001128839
NM_001128840

c.A790G
c.A790G
c.A790G

p.I264V
p.I264V
p.I264V

21.0

1.648E-5

Li2017 T

CACNA1D

1-0534-004

chr3:
53593876-53593876

T

C

intronic

De novo

-

Yuen2017 G

CACNA1D

2-1305-003

chr3:
53696735-53696735

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CACNA1D

Li2017:23185

chr3:
53796100-53796100

G

A

exonic

Unknown

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.G3862A
c.G3862A
c.G3922A

p.E1288K
p.E1288K
p.E1308K

19.8

2.472E-5

Li2017 T

CACNA1D

1-0757-003

chr3:
53748509-53748509

G

A

intronic

De novo

-

Yuen2017 G

CACNA1D

11872.p1

chr3:
53764493-53764493

C

G

exonic

De novo

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.C2246G
c.C2246G
c.C2306G

p.A749G
p.A749G
p.A769G

31.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G

CACNA1D

AU1939302

chr3:
53844106-53844106

G

A

exonic

De novo

synonymous SNV

NM_001128839
NM_001128840
NM_000720

c.G5901A
c.G5973A
c.G6033A

p.R1967R
p.R1991R
p.R2011R

-

Fu2022 E
Satterstrom2020 E

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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