Variant Results

or

Results for "CACNA1E"

Variant Events: 71

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

CACNA1E

AU1542303

chr1:
181607007-181607007

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1E

3C577

chr1:
181549895-181549895

A

G

exonic

De novo

nonsynonymous SNV

NM_000721
NM_001205293
NM_001205294

c.A934G
c.A934G
c.A934G

p.T312A
p.T312A
p.T312A

20.4

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CACNA1E

AU03604

chr1:
181721285-181721285

C

T

exonic

De novo

synonymous SNV

NM_001205294
NM_000721
NM_001205293

c.C3681T
c.C3738T
c.C3738T

p.N1227N
p.N1246N
p.N1246N

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CACNA1E

SP0018656

chr1:
181767736-181767736

C

T

exonic

De novo

synonymous SNV

NM_001205294
NM_000721
NM_001205293

c.C6522T
c.C6579T
c.C6708T

p.H2174H
p.H2193H
p.H2236H

-

1.681E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

CACNA1E

SP0138832-DUP

chr1:
181754985-181754985

G

A

intronic

De novo

-

Fu2022 E

CACNA1E

SP0093864

chr1:
181767990-181767990

T

A

UTR3

De novo

-

Fu2022 E
Trost2022 G

CACNA1E

Chen2017:69

chr1:
181686288-181686288

C

T

exonic

De novo

nonsynonymous SNV

NM_000721
NM_001205293
NM_001205294

c.C1375T
c.C1375T
c.C1375T

p.R459W
p.R459W
p.R459W

25.7

-

Chen2017 E

CACNA1E

AU031204

chr1:
181822883-181822883

A

G

intergenic

De novo

-

Yuen2017 G

CACNA1E

SP0050224

chr1:
181762742-181762742

C

G

intronic

De novo

-

Fu2022 E

CACNA1E

1-0004-003

chr1:
181465393-181465393

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1E

5898

chr1:
181708295-181708295

G

A

exonic

De novo

nonsynonymous SNV

NM_001205294
NM_000721
NM_001205293

c.G3568A
c.G3625A
c.G3625A

p.G1190S
p.G1209S
p.G1209S

35.0

-

Fu2022 E
Trost2022 G

CACNA1E

AU3913303

chr1:
181954941-181954941

C

T

intergenic

De novo

-

Yuen2017 G

CACNA1E

Lim2017:5898

chr1:
181708295-181708295

G

A

exonic

De novo

nonsynonymous SNV

NM_001205294
NM_000721
NM_001205293

c.G3568A
c.G3625A
c.G3625A

p.G1190S
p.G1209S
p.G1209S

35.0

-

Lim2017 E

CACNA1E

2-0003-003

chr1:
181747825-181747825

G

GTAAGATAGC

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1E

5-0138-003

chr1:
181852697-181852697

C

T

intergenic

De novo

-

Yuen2017 G

CACNA1E

AU2123301

chr1:
181810449-181810470

GTTTTTGTTTTTTGTTTTTTGT

GTTTTTGTTTTTTGT

intergenic

De novo

-

Yuen2017 G

CACNA1E

14482.p1

chr1:
181631339-181631339

G

T

intronic

De novo

-

Turner2016 G

CACNA1E

3-0391-000

chr1:
181957476-181957477

AG

A

intergenic

De novo

-

Yuen2017 G

CACNA1E

13152.p1

chr1:
181701777-181701777

G

C

exonic

De novo

nonsynonymous SNV

NM_001205294
NM_000721
NM_001205293

c.G2498C
c.G2555C
c.G2555C

p.R833P
p.R852P
p.R852P

14.03

-

Satterstrom2020 E
Zhou2022 GE

CACNA1E

SSC06613

chr1:
181701777-181701777

G

C

exonic

De novo

nonsynonymous SNV

NM_001205294
NM_000721
NM_001205293

c.G2498C
c.G2555C
c.G2555C

p.R833P
p.R852P
p.R852P

14.03

-

Fu2022 E
Trost2022 G

CACNA1E

2-0214-004

chr1:
181466114-181466114

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1E

200675515_1082034250

chr1:
181686288-181686288

C

T

exonic

De novo

nonsynonymous SNV

NM_000721
NM_001205293
NM_001205294

c.C1375T
c.C1375T
c.C1375T

p.R459W
p.R459W
p.R459W

25.7

-

Fu2022 E

CACNA1E

SP0114903

chr1:
181754552-181754552

C

T

exonic

De novo

stopgain

NM_001205294
NM_000721
NM_001205293

c.C5620T
c.C5677T
c.C5677T

p.Q1874X
p.Q1893X
p.Q1893X

48.0

-

Antaki2022 GE
Fu2022 E
Zhou2022 GE

CACNA1E

244-07-108352

chr1:
181705570-181705570

C

T

exonic

De novo

nonsynonymous SNV

NM_001205294
NM_000721
NM_001205293

c.C3365T
c.C3422T
c.C3422T

p.P1122L
p.P1141L
p.P1141L

16.37

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CACNA1E

200675515@1082034250

chr1:
181686288-181686288

C

T

exonic

De novo

nonsynonymous SNV

NM_000721
NM_001205293
NM_001205294

c.C1375T
c.C1375T
c.C1375T

p.R459W
p.R459W
p.R459W

25.7

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CACNA1E

SSC03395

chr1:
181708295-181708295

G

A

exonic

nonsynonymous SNV

NM_001205294
NM_000721
NM_001205293

c.G3568A
c.G3625A
c.G3625A

p.G1190S
p.G1209S
p.G1209S

35.0

-

Antaki2022 GE

CACNA1E

AU4243302

chr1:
181659727-181659727

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1E

SP0074183

chr1:
181706787-181706787

C

A

exonic

De novo

nonsynonymous SNV

NM_001205294
NM_000721
NM_001205293

c.C3492A
c.C3549A
c.C3549A

p.N1164K
p.N1183K
p.N1183K

20.2

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

CACNA1E

1-1084-003

chr1:
181732627-181732627

C

A

exonic

De novo

nonsynonymous SNV

NM_001205294
NM_000721
NM_001205293

c.C4718A
c.C4775A
c.C4775A

p.T1573N
p.T1592N
p.T1592N

28.0

-

Trost2022 G
Zhou2022 GE

CACNA1E

2-0012-003

chr1:
181769013-181769020

CCTCCTGG

C

UTR3

De novo

-

Yuen2017 G

CACNA1E

2-0145-003

chr1:
181651111-181651113

CTG

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1E

2-1529-003

chr1:
181711989-181711989

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1E

Codina-Sola2015:ASD_13

chr1:
181706695-181706695

C

T

exonic

Paternal

nonsynonymous SNV

NM_001205294
NM_000721
NM_001205293

c.C3400T
c.C3457T
c.C3457T

p.R1134C
p.R1153C
p.R1153C

23.4

9.124E-5

Codina-Sola2015 E

CACNA1E

1-0305-004

chr1:
181747987-181747987

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1E

1-0404-003

chr1:
181995253-181995253

C

T

intergenic

De novo

-

Yuen2017 G

CACNA1E

2-1461-003

chr1:
182013996-182013996

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CACNA1E

PN400343

chr1:
181762910-181762910

G

A

exonic

Unknown

nonsynonymous SNV

NM_001205293

c.G6008A

p.R2003H

32.0

0.0012

Leblond2019 E

CACNA1E

SP0102818

chr1:
181680101-181680101

A

AAG

exonic

frameshift insertion

NM_000721
NM_001205293
NM_001205294

c.1067_1068insAG
c.1067_1068insAG
c.1067_1068insAG

p.K356fs
p.K356fs
p.K356fs

-

4.315E-5

Zhou2022 GE

CACNA1E

SP0364029

chr1:
181680101-181680101

A

AAG

exonic

frameshift insertion

NM_000721
NM_001205293
NM_001205294

c.1067_1068insAG
c.1067_1068insAG
c.1067_1068insAG

p.K356fs
p.K356fs
p.K356fs

-

4.315E-5

Zhou2022 GE

CACNA1E

SP0247933

chr1:
181765942-181765942

G

A

exonic

De novo

nonsynonymous SNV

NM_001205294
NM_000721
NM_001205293

c.G6161A
c.G6218A
c.G6347A

p.R2054H
p.R2073H
p.R2116H

25.9

0.0011

Trost2022 G
Zhou2022 GE

CACNA1E

SP0152483

chr1:
181725228-181725228

C

T

exonic

De novo

stopgain

NM_001205294
NM_000721
NM_001205293

c.C4069T
c.C4126T
c.C4126T

p.Q1357X
p.Q1376X
p.Q1376X

46.0

-

Trost2022 G
Zhou2022 GE

CACNA1E

10-0001-003

chr1:
181521082-181521082

T

A

intronic

De novo

-

Trost2022 G

CACNA1E

2-1508-003

chr1:
182017170-182017170

G

T

intergenic

De novo

-

Yuen2017 G

CACNA1E

5-0103-003

chr1:
181602528-181602528

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1E

3-0530-000

chr1:
181514982-181514982

A

G

intronic

De novo

-

Trost2022 G

CACNA1E

MSSNG00057-003

chr1:
181577708-181577708

A

G

intronic

De novo

-

Trost2022 G

CACNA1E

1-1121-003

chr1:
181526958-181526958

T

C

intronic

De novo

-

Trost2022 G

CACNA1E

2-1336-004

chr1:
181452223-181452224

TT

CCTCCCTCCC

upstream

De novo

-

Trost2022 G

CACNA1E

1-0246-005

chr1:
181914704-181914704

T

C

intergenic

De novo

-

Yuen2017 G

CACNA1E

7-0252-003

chr1:
181707240-181707240

A

G

intronic

De novo

-

Trost2022 G

CACNA1E

2-0126-004

chr1:
181704722-181704725

ACCT

TC

intronic

De novo

-

Trost2022 G

CACNA1E

5-5025-004

chr1:
181763465-181763465

C

G

intronic

De novo

-

Trost2022 G

CACNA1E

5-0101-003

chr1:
181725797-181725797

C

G

intronic

De novo

-

Trost2022 G

CACNA1E

5-0018-003

chr1:
181588341-181588342

GG

CCGC

intronic

De novo

-

Trost2022 G

CACNA1E

SJD_8.3

chr1:
181588324-181588324

G

C

intronic

De novo

-

Trost2022 G

CACNA1E

1-0150-004

chr1:
181701926-181701928

GGA

TTC

exonic

De novo

nonframeshift substitution

NM_001205294
NM_000721
NM_001205293

c.2647_2649TTC
c.2704_2706TTC
c.2704_2706TTC

N/A
N/A
N/A

-

Trost2022 G

CACNA1E

5-5016-003

chr1:
181691654-181691654

C

A

intronic

De novo

-

Trost2022 G

CACNA1E

1-0552-003

chr1:
181818424-181818424

T

C

intergenic

De novo

-

Yuen2017 G

CACNA1E

7-0102-003

chr1:
181613993-181613993

A

G

intronic

De novo

-

Yuen2017 G

CACNA1E

Viggiano2022:43.3

chr1:
181759669-181759669

C

A

exonic

Paternal

nonsynonymous SNV

NM_001205294
NM_000721
NM_001205293

c.C5818A
c.C5875A
c.C5875A

p.Q1940K
p.Q1959K
p.Q1959K

11.96

2.485E-5

Viggiano2022 GT

CACNA1E

AU3787302

chr1:
181931767-181931767

A

C

intergenic

De novo

-

Yuen2017 G

CACNA1E

1-0559-004

chr1:
181605288-181605288

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1E

AU3794302

chr1:
181731079-181731079

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1E

2-0219-004

chr1:
181736880-181736880

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1E

1-0092-003

chr1:
181730943-181730943

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1E

Mahjani2021:13

chr1:
181480610-181480610

G

A

exonic

nonsynonymous SNV

NM_000721
NM_001205293
NM_001205294

c.G476A
c.G476A
c.G476A

p.G159D
p.G159D
p.G159D

27.9

-

Mahjani2021 E

CACNA1E

AU011903

chr1:
181626329-181626329

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1E

11773.p1

chr1:
181708295-181708295

G

A

exonic

De novo

nonsynonymous SNV

NM_001205294
NM_000721
NM_001205293

c.G3568A
c.G3625A
c.G3625A

p.G1190S
p.G1209S
p.G1209S

35.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

CACNA1E

AU3343301

chr1:
181958828-181958828

T

C

intergenic

De novo

-

Yuen2017 G

CACNA1E

Mahjani2021:16

chr1:
181735745-181735745

C

T

exonic

stopgain

NM_001205294
NM_000721
NM_001205293

c.C4822T
c.C4879T
c.C4879T

p.Q1608X
p.Q1627X
p.Q1627X

52.0

-

Mahjani2021 E

CACNA1E

2-0145-004

chr1:
181651111-181651113

CTG

C

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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