Variant Results

or

Results for "SLC8A1"

Variant Events: 97

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

SLC8A1

7-0059-003

chr2:
42000713-42000713

C

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0336-003

chr2:
40684153-40684153

C

A

intronic

De novo

-

Yuen2017 G

SLC8A1

1-0640-003

chr2:
41707934-41707934

T

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

2-1594-003

chr2:
40939935-40939935

G

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0483-003

chr2:
41496083-41496083

T

TTAAAC

intergenic

De novo

-

Yuen2016 G

SLC8A1

AU4197301

chr2:
40759931-40759931

G

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU065304

chr2:
40945091-40945091

A

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0487-003

chr2:
40745334-40745338

ATTTC

A

intergenic

De novo

-

Yuen2016 G

SLC8A1

2-1356-003

chr2:
40744890-40744890

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC8A1

AU2569303

chr2:
40855175-40855175

A

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0763-003

chr2:
41883510-41883510

A

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU3811305

chr2:
41968607-41968607

A

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0354-006

chr2:
40813801-40813804

TTTG

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

11464.p1

chr2:
41213121-41213122

CT

TC

intergenic

Maternal

-

Wilfert2021 G

SLC8A1

1-0043-003

chr2:
41391988-41391988

G

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

5-0110-003

chr2:
40687586-40687586

C

T

intronic

De novo

-

Yuen2017 G

SLC8A1

AU4426303

chr2:
41731285-41731285

A

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU4356302

chr2:
41111671-41111671

C

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

2-1336-004

chr2:
41675397-41675397

G

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU2975301

chr2:
40667841-40667841

G

A

intronic

De novo

-

Yuen2017 G

SLC8A1

3-0456-000B

chr2:
40957539-40957539

G

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0569-003

chr2:
41213627-41213627

C

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU075210

chr2:
40492856-40492856

T

C

intronic

De novo

-

Yuen2017 G

SLC8A1

7-0127-003

chr2:
41373808-41373808

G

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0604-003

chr2:
40765954-40765971

GATATATATATATATATA

GATATATATATATATATATA

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU3636302

chr2:
41692022-41692022

G

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU3636302

chr2:
41710267-41710267

G

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

7-0148-003

chr2:
41319122-41319122

A

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

Bruno2021:XVII

chr2:
40392055-40392055

C

T

exonic

De novo

nonsynonymous SNV

NM_001112801
NM_001112802
NM_001112800
NM_001252624
NM_021097

c.G2069A
c.G2000A
c.G2093A
c.G2084A
c.G2108A

p.R690H
p.R667H
p.R698H
p.R695H
p.R703H

19.87

4.125E-5

Bruno2021 E

SLC8A1

1-0509-003

chr2:
41314535-41314535

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC8A1

2-1368-003

chr2:
41447546-41447562

TTGTGTGTGTGTGTGTG

TTGTGTGTGTGTGTG

intergenic

De novo

-

Yuen2017 G

SLC8A1

2-1461-003

chr2:
41770167-41770167

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC8A1

AU0452304

chr2:
40969232-40969232

A

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU1223303

chr2:
41949004-41949004

T

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0906-003

chr2:
41622942-41622942

G

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU4015302

chr2:
41743900-41743900

A

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

2-1722-003

chr2:
41964994-41964994

C

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

2-1627-003

chr2:
41074148-41074148

T

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU061003

chr2:
41693216-41693216

C

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

2-0102-004

chr2:
41815531-41815531

C

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

2-0102-004

chr2:
41802073-41802073

A

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU3809302

chr2:
41528879-41528879

G

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0898-003

chr2:
40680444-40680444

G

T

intronic

De novo

-

Yuen2017 G

SLC8A1

5-0074-003

chr2:
40721592-40721592

C

T

intronic

De novo

-

Yuen2017 G

SLC8A1

2-1093-005

chr2:
41360290-41360290

G

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

2-1093-005

chr2:
41357852-41357852

G

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU3874301

chr2:
41700813-41700813

G

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

2-1480-003

chr2:
41630905-41630905

A

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

2-1244-003

chr2:
41169244-41169244

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC8A1

3-0111-000

chr2:
41420610-41420610

C

G

intergenic

De novo

-

Yuen2016 G

SLC8A1

2-1362-004

chr2:
41674118-41674118

A

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

2-1480-003

chr2:
41630909-41630909

A

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

2-1146-003

chr2:
40561632-40561632

A

T

intronic

De novo

-

Yuen2017 G

SLC8A1

AU4233301

chr2:
40784221-40784221

C

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU2433302

chr2:
41798997-41798997

G

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

2-0318-004

chr2:
41041848-41041848

G

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU4235301

chr2:
40908757-40908757

T

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU2433302

chr2:
41798305-41798305

G

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU3912303

chr2:
40737037-40737037

G

A

intronic

De novo

-

Yuen2017 G

SLC8A1

1-0585-003

chr2:
41775798-41775798

T

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0973-003

chr2:
41867181-41867181

A

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

12529.p1

chr2:
41922292-41922292

T

C

intergenic

De novo

-

Turner2016 G

SLC8A1

3-0391-000

chr2:
40823502-40823502

T

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU3839303

chr2:
40673656-40673656

T

C

intronic

De novo

-

Yuen2017 G

SLC8A1

1-0294-003

chr2:
41544484-41544484

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC8A1

1-0051-005

chr2:
41078321-41078321

G

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

2-1605-004

chr2:
41341237-41341237

T

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

7-0128-003

chr2:
41468907-41468907

C

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0404-003

chr2:
41820945-41820958

ACTCTCTCTCTCTC

ACTCTCTCTCTC

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU2140305

chr2:
40898672-40898672

T

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU2140305

chr2:
41291537-41291537

C

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU2140305

chr2:
41297334-41297334

T

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU4159302

chr2:
41798196-41798196

T

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

3-0216-000

chr2:
41130177-41130177

A

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

63-343

chr2:
41448454-41448454

C

G

intergenic

De novo

-

Michaelson2012 G

SLC8A1

AU3760301

chr2:
41495876-41495876

G

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0345-003

chr2:
42043104-42043104

T

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU038203

chr2:
42094259-42094259

T

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

7-0024-005

chr2:
41631879-41631879

G

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU039304

chr2:
42046326-42046326

G

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0278-003

chr2:
41924896-41924896

C

T

intergenic

De novo

-

Yuen2016 G

SLC8A1

1-0290-003

chr2:
41990652-41990653

AG

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0196-005

chr2:
41659877-41659877

G

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0487-003

chr2:
41567451-41567451

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC8A1

AU2129301

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

SLC8A1

AU3787302

chr2:
40796444-40796444

G

C

intergenic

De novo

-

Yuen2017 G

SLC8A1

3-0456-000

chr2:
40957539-40957539

G

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

7-0123-003

chr2:
41663594-41663594

G

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0041-003

chr2:
41731573-41731573

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC8A1

AU2117302

chr2:
41573841-41573841

G

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

A1

chr2:
42095575-42095575

G

A

intergenic

De novo

-

Wu2018 G

SLC8A1

7-0192-003

chr2:
41006073-41006073

C

T

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU4264302

chr2:
41735104-41735104

A

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

1-0358-003

chr2:
41418027-41418027

G

A

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU2029301

chr2:
41644558-41644559

GC

G

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU4150301

chr2:
40978141-40978147

AATTATT

AATT

intergenic

De novo

-

Yuen2017 G

SLC8A1

AU0780301

chr2:
41348389-41348389

C

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
	More