Variant Results

or

Results for "GJA1"

Variant Events: 56

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

GJA1

13946.p1

chr6:
122621903-122621903

A

G

intergenic

De novo

-

Turner2016 G

GJA1

1-0593-003

chr6:
122537033-122537033

G

A

intergenic

De novo

-

Yuen2017 G

GJA1

11089.p1

chr6:
121938655-121938655

T

C

intergenic

De novo

-

Turner2016 G

GJA1

13964.p1

chr6:
122291605-122291605

T

C

intergenic

De novo

-

Turner2016 G

GJA1

PN400508

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

3-0661-000

chr6:
122578925-122578925

T

G

intergenic

De novo

-

Yuen2017 G

GJA1

AU1404301

chr6:
121825679-121825679

C

T

intergenic

De novo

-

Yuen2017 G

GJA1

PN400383

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

2-1452-003

chr6:
122074778-122074778

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GJA1

PN400209

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

7-0100-004

chr6:
122437368-122437368

C

T

intergenic

De novo

-

Yuen2017 G

GJA1

11615.p1

chr6:
122222146-122222146

C

T

intergenic

Unknown

-

Werling2018 G

GJA1

PN400359

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

PN400348

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

2-0158-003

chr6:
122348116-122348116

A

G

intergenic

De novo

-

Yuen2017 G

GJA1

AU3721301

chr6:
122677088-122677088

T

C

intergenic

De novo

-

Yuen2017 G

GJA1

AU4286302

chr6:
122258130-122258130

G

A

intergenic

De novo

-

Yuen2017 G

GJA1

AU034904

chr6:
122489004-122489004

A

C

intergenic

De novo

-

Yuen2017 G

GJA1

2-1185-003

chr6:
122703769-122703769

G

A

intergenic

De novo

-

Yuen2017 G

GJA1

PN400457

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

1-0231-004

chr6:
122423463-122423464

AG

A

intergenic

De novo

-

Yuen2017 G

GJA1

PN400590

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

2-1292-004

chr6:
121884019-121884019

A

AG

intergenic

De novo

-

Yuen2017 G

GJA1

AU4444304

chr6:
122231190-122231190

T

C

intergenic

De novo

-

Yuen2017 G

GJA1

1-0257-003

chr6:
122678715-122678715

A

T

intergenic

De novo

-

Yuen2017 G

GJA1

2-0318-004

chr6:
122327128-122327128

A

G

intergenic

De novo

-

Yuen2017 G

GJA1

1-0385-003

chr6:
122556773-122556773

T

G

intergenic

De novo

-

Yuen2017 G

GJA1

PN400441

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

PN400230

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

AU3729303

chr6:
121874734-121874734

C

A

intergenic

De novo

-

Yuen2017 G

GJA1

PN400540

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

2-0198-004

chr6:
122014342-122014342

C

CAT

intergenic

De novo

-

Yuen2017 G

GJA1

PN400119

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

PN400484

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

1-0299-003

chr6:
122369165-122369165

T

C

intergenic

De novo

-

Yuen2017 G

GJA1

PN400257

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

5-0015-004

chr6:
122702312-122702312

C

T

intergenic

De novo

-

Yuen2017 G

GJA1

3-0287-000

chr6:
121771216-121771216

T

G

downstream

De novo

-

Trost2022 G

GJA1

2-1522-003

chr6:
122129148-122129148

A

C

intergenic

De novo

-

Yuen2017 G

GJA1

AU3861301

chr6:
122003176-122003176

C

T

intergenic

De novo

-

Yuen2017 G

GJA1

2-1605-004

chr6:
122060458-122060458

C

T

intergenic

De novo

-

Yuen2017 G

GJA1

1-0219-003

chr6:
121912509-121912509

G

C

intergenic

De novo

-

Yuen2017 G

GJA1

PN400443

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

2-1437-004

chr6:
121766321-121766321

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GJA1

PN400312

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

PN400301

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

PN400231

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

GJA1

AU0636303

chr6:
122212529-122212529

G

A

intergenic

De novo

-

Yuen2017 G

GJA1

2-1514-003

chr6:
122108240-122108240

T

C

intergenic

De novo

-

Yuen2017 G

GJA1

2-0309-005

chr6:
121903013-121903013

C

G

intergenic

De novo

-

Yuen2017 G

GJA1

AU2485305

chr6:
122537262-122537266

CCGAC

CCGACGAC

intergenic

De novo

-

Yuen2017 G

GJA1

AU2756306

chr6:
121853246-121853246

T

C

intergenic

De novo

-

Yuen2017 G

GJA1

AU4211304

chr6:
122106047-122106047

C

T

intergenic

De novo

-

Yuen2017 G

GJA1

12175.p1

chr6:
121782395-121782395

C

G

intergenic

De novo

-

Turner2016 G

GJA1

AU1933302

chr6:
121905839-121905839

A

G

intergenic

De novo

-

Yuen2017 G

GJA1

PN400470

chr6:
121768924-121768925

GC

G

exonic

Unknown

frameshift deletion

NM_000165

c.932delC

p.A311fs

-

0.0072

Leblond2019 E

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