Variant Results

or

Results for "CACNA1I"

Variant Events: 31

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

CACNA1I

SSC09641

chr22:
40066099-40066099

C

T

exonic

Mosaic

synonymous SNV

NM_001003406
NM_021096

c.C4146T
c.C4251T

p.I1382I
p.I1417I

-

Lim2017 E

CACNA1I

SP0042394

chr22:
40042442-40042442

A

ATCTCCCCATCTCCCTCTGCCTCCC

intronic

De novo

-

Fu2022 E

CACNA1I

iHART2020

chr22:
40057990-40057990

C

G

exonic

Maternal

stopgain

NM_001003406
NM_021096

c.C2817G
c.C2922G

p.Y939X
p.Y974X

40.0

-

Ruzzo2019 G

CACNA1I

Viggiano2022:4.3

chr22:
40068239-40068239

G

A

exonic

Paternal

nonsynonymous SNV

NM_001003406
NM_021096

c.G4470A
c.G4575A

p.M1490I
p.M1525I

4.761

8.281E-6

Viggiano2022 GT

CACNA1I

Viggiano2022:16.3

chr22:
39966842-39966842

C

T

exonic

Maternal

nonsynonymous SNV

NM_001003406
NM_021096

c.C85T
c.C85T

p.R29W
p.R29W

16.16

2.0E-4

Viggiano2022 GT

CACNA1I

A19

chr22:
39979101-39979101

T

G

intronic

De novo

-

Wu2018 G

CACNA1I

AU3913302

chr22:
40026347-40026349

GCC

GC

intronic

De novo

-

Yuen2017 G

CACNA1I

1-0969-003

chr22:
39970840-39970840

G

A

intronic

De novo

-

Yuen2017 G

CACNA1I

AU3190305

chr22:
40090057-40090057

G

T

intergenic

De novo

-

Yuen2017 G

CACNA1I

1-0572-003

chr22:
39998849-39998851

TTA

TTATA

intronic

De novo

-

Yuen2017 G

CACNA1I

G01-GEA-127-HI

chr22:
40066127-40066127

G

A

exonic

De novo

nonsynonymous SNV

NM_001003406
NM_021096

c.G4174A
c.G4279A

p.V1392M
p.V1427M

22.8

-

Fu2022 E
Lim2017 E
Satterstrom2020 E

CACNA1I

Viggiano2022:14.3

chr22:
40075374-40075374

G

A

exonic

Maternal

nonsynonymous SNV

NM_001003406
NM_021096

c.G5213A
c.G5318A

p.G1738D
p.G1773D

13.6

-

Viggiano2022 GT

CACNA1I

SP0102595

chr22:
40045599-40045599

C

G

exonic

De novo

nonsynonymous SNV

NM_001003406
NM_021096

c.C1556G
c.C1661G

p.P519R
p.P554R

15.1

-

Fu2022 E

CACNA1I

DEASD_0026_001

chr22:
40069085-40069085

G

A

exonic

De novo

nonsynonymous SNV

NM_001003406
NM_021096

c.G4676A
c.G4781A

p.R1559Q
p.R1594Q

20.8

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

CACNA1I

SP0020577

chr22:
40043842-40043842

G

T

exonic

De novo

nonsynonymous SNV

NM_021096

c.G1478T

p.G493V

2.834

-

Fu2022 E

CACNA1I

NDAR_INVYN991VXJ_wes1

chr22:
40075841-40075841

G

A

exonic

De novo

nonsynonymous SNV

NM_001003406
NM_021096

c.G5404A
c.G5509A

p.G1802S
p.G1837S

1.652

2.853E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

CACNA1I

SP0016315

chr22:
39966977-39966977

A

G

exonic

De novo

nonsynonymous SNV

NM_001003406
NM_021096

c.A220G
c.A220G

p.K74E
p.K74E

17.42

-

Fu2022 E

CACNA1I

SP0055996

chr22:
40081967-40081967

C

T

exonic

De novo

synonymous SNV

NM_001003406
NM_021096

c.C6124T
c.C6229T

p.L2042L
p.L2077L

-

Fu2022 E

CACNA1I

SP0088773

chr22:
40045657-40045657

C

A

exonic

De novo

synonymous SNV

NM_001003406
NM_021096

c.C1614A
c.C1719A

p.G538G
p.G573G

-

Fu2022 E

CACNA1I

SP0067105

chr22:
40078674-40078674

G

T

intronic

De novo

-

Fu2022 E

CACNA1I

SP0140229

chr22:
39966921-39966921

C

T

exonic

De novo

nonsynonymous SNV

NM_001003406
NM_021096

c.C164T
c.C164T

p.A55V
p.A55V

18.77

-

Fu2022 E

CACNA1I

SP0033904

chr22:
40037063-40037063

A

G

exonic

De novo

nonsynonymous SNV

NM_001003406
NM_021096

c.A932G
c.A932G

p.N311S
p.N311S

16.49

-

Fu2022 E

CACNA1I

SP0013041

chr22:
40082102-40082102

G

C

exonic

De novo

nonsynonymous SNV

NM_001003406
NM_021096

c.G6259C
c.G6364C

p.E2087Q
p.E2122Q

12.86

-

Fu2022 E

CACNA1I

1-0367-003

chr22:
40072272-40072272

C

T

intronic

De novo

-

Yuen2017 G

CACNA1I

SP0084135

chr22:
40081868-40081868

C

A

exonic

De novo

nonsynonymous SNV

NM_001003406
NM_021096

c.C6025A
c.C6130A

p.R2009S
p.R2044S

6.264

-

Fu2022 E

CACNA1I

AU3761302

chr22:
40065202-40065202

G

A

intronic

De novo

-

Yuen2017 G

CACNA1I

AU4015303

chr22:
40107336-40107336

T

A

intergenic

De novo

-

Yuen2017 G

CACNA1I

13939.p1

chr22:
40066099-40066099

C

T

exonic

Mosaic, De novo

synonymous SNV

NM_001003406
NM_021096

c.C4146T
c.C4251T

p.I1382I
p.I1417I

-

Krumm2015 E
Krupp2017 E

CACNA1I

AU3806304

chr22:
40014444-40014444

G

A

intronic

De novo

-

Yuen2017 G

CACNA1I

SP0049360

chr22:
40030696-40030696

G

A

exonic

De novo

nonsynonymous SNV

NM_001003406
NM_021096

c.G707A
c.G707A

p.R236H
p.R236H

36.0

-

Antaki2022 GE
Fu2022 E

CACNA1I

AU079104

chr22:
40094351-40094351

C

T

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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