Variant Results

or

Results for "CACNA1A"

Variant Events: 40

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

CACNA1A

SP0129517

chr19:
13563870-13563870

C

G

intronic

De novo

-

Fu2022 E

CACNA1A

SP0076269

chr19:
13616812-13616812

C

T

exonic

De novo

nonsynonymous SNV

NM_001127221
NM_001127222

c.G227A
c.G227A

p.R76Q
p.R76Q

14.82

-

Fu2022 E

CACNA1A

1-0336-004

chr19:
13334913-13334920

TGAGACCA

T

intronic

De novo

-

Yuen2017 G

CACNA1A

SP0072755

chr19:
13370312-13370312

C

A

intronic

De novo

-

Fu2022 E

CACNA1A

SP0021714

chr19:
13397348-13397348

G

C

exonic

De novo

nonsynonymous SNV

NM_001127221
NM_001127222

c.C3525G
c.C3522G

p.C1175W
p.C1174W

11.52

-

Fu2022 E

CACNA1A

1-0246-004

chr19:
13667423-13667423

C

A

intergenic

De novo

-

Yuen2017 G

CACNA1A

Viggiano2022:4.3

chr19:
13325090-13325090

C

T

exonic

Maternal

nonsynonymous SNV

NM_001127221
NM_001127222

c.G5900A
c.G5897A

p.R1967Q
p.R1966Q

21.8

4.0E-4

Viggiano2022 GT

CACNA1A

2-1186-003

chr19:
13445894-13445894

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CACNA1A

Viggiano2022:94.3

chr19:
13325055-13325055

C

T

exonic

Maternal

nonsynonymous SNV

NM_001127221
NM_001127222

c.G5935A
c.G5932A

p.E1979K
p.E1978K

19.45

-

Viggiano2022 GT

CACNA1A

1-0006-004

chr19:
13593021-13593021

C

T

intronic

De novo

-

Yuen2017 G

CACNA1A

11660.p1

chr19:
13445217-13445217

C

G

exonic

De novo

synonymous SNV

NM_001127221
NM_001127222

c.G1173C
c.G1173C

p.G391G
p.G391G

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

CACNA1A

1-0054-003

chr19:
13332040-13332040

C

CTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTT

intronic

De novo

-

Yuen2017 G

CACNA1A

AU4027306

chr19:
13319578-13319578

G

T

exonic

De novo

nonsynonymous SNV

NM_001127221
NM_001127222

c.C6775A
c.C6772A

p.H2259N
p.H2258N

13.41

-

Yuen2017 G

CACNA1A

Viggiano2022:113.4

chr19:
13319800-13319800

T

C

exonic

Unknown

nonsynonymous SNV

NM_001127221
NM_001127222

c.A6553G
c.A6550G

p.T2185A
p.T2184A

11.0

-

Viggiano2022 GT

CACNA1A

AU3721301

chr19:
13803141-13803141

G

A

intergenic

De novo

-

Yuen2017 G

CACNA1A

Yamamoto2019:2

chr19:
13341007-13341007

A

G

exonic

De novo

nonsynonymous SNV

NM_001127221
NM_001127222

c.T5420C
c.T5417C

p.V1807A
p.V1806A

17.12

-

Yamamoto2019 T

CACNA1A

AU3716302

chr19:
13471169-13471169

C

A

intronic

De novo

-

Yuen2017 G

CACNA1A

P021

chr19:
13373569-13373572

GATG

G

exonic

De novo

nonframeshift deletion

NM_001127221
NM_001127222

c.4068_4070del
c.4065_4067del

p.1356_1357del
p.1355_1356del

-

Long2019 ET

CACNA1A

2-1345-003

chr19:
13688515-13688515

A

C

intergenic

De novo

-

Yuen2017 G

CACNA1A

SP0031795

chr19:
13414398-13414398

C

T

exonic

De novo

nonsynonymous SNV

NM_001127221
NM_001127222

c.G2137A
c.G2134A

p.A713T
p.A712T

22.1

-

Antaki2022 GE
Fu2022 E

CACNA1A

5-0147-003

chr19:
13592647-13592647

G

C

intronic

De novo

-

Yuen2017 G

CACNA1A

P014

chr19:
13373594-13373594

C

T

exonic

De novo

nonsynonymous SNV

NM_001127221
NM_001127222

c.G4046A
c.G4043A

p.R1349Q
p.R1348Q

24.0

-

Long2019 ET

CACNA1A

1-0233-004

chr19:
13332024-13332024

G

C

intronic

De novo

-

Yuen2017 G

CACNA1A

2-1291-003

chr19:
13720972-13720972

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CACNA1A

5028

chr19:
13445217-13445217

C

G

exonic

De novo

synonymous SNV

NM_001127221
NM_001127222

c.G1173C
c.G1173C

p.G391G
p.G391G

-

Fu2022 E

CACNA1A

ASC_CA_58_A

chr19:
13345750-13345750

A

T

exonic

De novo

nonsynonymous SNV

NM_001127221
NM_001127222

c.T5237A
c.T5234A

p.L1746H
p.L1745H

17.96

-

Fu2022 E
Satterstrom2020 E

CACNA1A

7-0222-003

chr19:
13806815-13806815

C

A

intergenic

De novo

-

Yuen2017 G

CACNA1A

SSC08475

chr19:
13419064-13419064

A

C

exonic

De novo

nonsynonymous SNV

NM_001127221
NM_001127222

c.T1786G
c.T1783G

p.Y596D
p.Y595D

17.29

8.708E-6

Fu2022 E

CACNA1A

1-0606-003

chr19:
13334388-13334388

C

T

intronic

De novo

-

Yuen2017 G

CACNA1A

7-0080-003

chr19:
13624400-13624400

A

C

intergenic

De novo

-

Yuen2017 G

CACNA1A

3-0434-000

chr19:
13718792-13718792

A

C

intergenic

De novo

-

Yuen2017 G

CACNA1A

G01_GEA508HI

chr19:
13341002-13341002

C

T

exonic

De novo

nonsynonymous SNV

NM_001127221
NM_001127222

c.G5425A
c.G5422A

p.V1809I
p.V1808I

19.93

-

Fu2022 E

CACNA1A

A22

chr19:
13811741-13811741

A

G

intergenic

De novo

-

Wu2018 G

CACNA1A

AU1860301

chr19:
13446816-13446816

G

C

intronic

De novo

-

Yuen2017 G

CACNA1A

AU2787302

chr19:
13629699-13629699

C

T

intergenic

De novo

-

Yuen2017 G

CACNA1A

1-0180-004

chr19:
13404051-13404051

G

GCCAGC

intronic

De novo

-

Yuen2017 G

CACNA1A

AU3839303

chr19:
13652178-13652178

G

A

intergenic

De novo

-

Yuen2017 G

CACNA1A

AU4284301

chr19:
13423239-13423239

T

C

intronic

De novo

-

Yuen2017 G

CACNA1A

1-0304-003

chr19:
13613426-13613426

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CACNA1A

2-1427-003

chr19:
13822437-13822437

G

A

intergenic

De novo

-

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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