Variant Results

or

Results for "CACNA1B"

Variant Events: 26

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

CACNA1B

SP0109153

chr9:
140938315-140938315

C

T

exonic

De novo

nonsynonymous SNV

NM_000718
NM_001243812

c.C3376T
c.C3376T

p.P1126S
p.P1126S

26.6

-

Fu2022 E

CACNA1B

SP0082451

chr9:
140938278-140938278

G

A

exonic

De novo

synonymous SNV

NM_000718
NM_001243812

c.G3339A
c.G3339A

p.A1113A
p.A1113A

-

9.936E-5

Fu2022 E

CACNA1B

SP0052491

chr9:
140880894-140880894

T

G

exonic

De novo

nonsynonymous SNV

NM_000718
NM_001243812

c.T1799G
c.T1799G

p.V600G
p.V600G

16.87

-

Fu2022 E

CACNA1B

AU4462302

chr9:
140921724-140921724

G

A

intronic

De novo

-

Yuen2017 G

CACNA1B

AU4423303

chr9:
140804654-140804654

G

A

intronic

De novo

-

Yuen2017 G

CACNA1B

SP0006155

chr9:
140948266-140948266

C

T

intronic

De novo

-

Fu2022 E

CACNA1B

1-0469-005

chr9:
140943742-140943742

G

A

exonic

De novo

nonsynonymous SNV

NM_000718
NM_001243812

c.G3685A
c.G3685A

p.G1229S
p.G1229S

33.0

-

Yuen2015 G
Yuen2017 G

CACNA1B

SP0090797

chr9:
140772549-140772549

C

CCATGGCGCTGTACAACCCCAT

exonic

De novo

nonframeshift insertion

NM_000718
NM_001243812

c.164_165insCATGGCGCTGTACAACCCCAT
c.164_165insCATGGCGCTGTACAACCCCAT

p.T55delinsTMALYNPI
p.T55delinsTMALYNPI

-

1.0E-4

Fu2022 E

CACNA1B

2-0144-004

chr9:
140823820-140823820

C

G

intronic

De novo

-

Yuen2017 G

CACNA1B

147-06-105672

chr9:
140919378-140919378

C

T

intronic

De novo

-

Satterstrom2020 E

CACNA1B

14028.p1

chr9:
140777199-140777199

G

T

exonic

Mosaic

nonsynonymous SNV

NM_000718
NM_001243812

c.G394T
c.G394T

p.D132Y
p.D132Y

11.64

-

Krupp2017 E

CACNA1B

14153.p1

chr9:
140919038-140919038

A

G

intronic

De novo

-

Turner2016 G

CACNA1B

200701695@0159773112

chr9:
140865791-140865791

T

G

intronic

De novo

-

4.0E-4

Satterstrom2020 E

CACNA1B

Viggiano2022:60.3

chr9:
141016261-141016261

C

T

exonic

Paternal

nonsynonymous SNV

NM_000718
NM_001243812

c.C6830T
c.C6643T

p.T2277I
p.L2215F

18.82

1.0E-4

Viggiano2022 GT

CACNA1B

TRE_1059

chr9:
140995653-140995653

G

A

intronic

De novo

23.8

1.194E-5

Fu2022 E

CACNA1B

Viggiano2022:87.3

chr9:
141016140-141016140

G

A

exonic

Maternal

nonsynonymous SNV

NM_000718

c.G6709A

p.A2237T

13.14

3.0E-4

Viggiano2022 GT

CACNA1B

ASDFI_1513

chr9:
140772650-140772650

A

G

exonic

De novo

nonsynonymous SNV

NM_000718
NM_001243812

c.A265G
c.A265G

p.K89E
p.K89E

24.5

0.0019

DeRubeis2014 E
Kosmicki2017 E

CACNA1B

Viggiano2022:18.3

chr9:
141016359-141016359

G

A

exonic

Paternal

nonsynonymous SNV

NM_000718

c.G6928A

p.V2310M

20.6

5.878E-5

Viggiano2022 GT

CACNA1B

AU3638302

chr9:
140892804-140892804

T

C

intronic

De novo

-

Yuen2017 G

CACNA1B

Viggiano2022:31.3

chr9:
141016111-141016111

G

A

exonic

Paternal

nonsynonymous SNV

NM_000718
NM_001243812

c.G6680A
c.G6493A

p.R2227Q
p.G2165S

17.79

-

Viggiano2022 GT

CACNA1B

Viggiano2022:66.3

chr9:
140918094-140918094

C

T

exonic

Maternal

nonsynonymous SNV

NM_000718
NM_001243812

c.C2899T
c.C2899T

p.R967W
p.R967W

13.48

-

Viggiano2022 GT

CACNA1B

AU2427301

chr9:
140862969-140862969

C

T

intronic

De novo

-

Yuen2017 G

CACNA1B

PN400488

chr9:
140991033-140991033

G

A

exonic

Unknown

nonsynonymous SNV

NM_000718
NM_001243812

c.G5192A
c.G5192A

p.R1731Q
p.R1731Q

35.0

-

Leblond2019 E

CACNA1B

NDAR_INVHU703KPJ_wes1

chr9:
140881023-140881023

A

G

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

CACNA1B

2-1397-003

chr9:
140998151-140998151

G

A

intronic

De novo

-

Yuen2017 G

CACNA1B

7-0167-003

chr9:
140897751-140897751

A

C

intronic

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
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