Variant Results

or

Results for "AKAP6"

Variant Events: 39

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

AKAP6

AU3716302

chr14:
32839129-32839129

C

T

intronic

De novo

-

Yuen2017 G

AKAP6

2-1374-003

chr14:
32841488-32841488

G

A

intronic

De novo

-

Yuen2017 G

AKAP6

AU4033305

chr14:
32682240-32682240

T

C

intergenic

De novo

-

Yuen2017 G

AKAP6

AU4260303

chr14:
33129067-33129067

A

T

intronic

De novo

-

Yuen2017 G

AKAP6

13023.p1

chr14:
33130276-33130276

G

A

intronic

De novo

-

Turner2016 G

AKAP6

A1

chr14:
33153642-33153642

T

C

intronic

De novo

-

Wu2018 G

AKAP6

5-0030-003

chr14:
33368358-33368358

T

TCC

intergenic

De novo

-

Yuen2017 G

AKAP6

2-0063-005

chr14:
33336515-33336515

A

C

intergenic

De novo

-

Yuen2017 G

AKAP6

AU3175302

chr14:
33069460-33069460

A

G

intronic

De novo

-

Yuen2017 G

AKAP6

2-1646-003

chr14:
33399966-33399966

T

C

intergenic

De novo

-

Yuen2017 G

AKAP6

2-1725-003

chr14:
33397072-33397072

G

A

intergenic

De novo

-

Yuen2017 G

AKAP6

7-0024-005

chr14:
32684041-32684041

C

T

intergenic

De novo

-

Yuen2017 G

AKAP6

2-0057-004

chr14:
33217451-33217451

A

G

intronic

De novo

-

Yuen2017 G

AKAP6

13945.p1

chr14:
33404059-33404059

G

GA

intergenic

De novo

-

Wilfert2021 G

AKAP6

1-0871-003

chr14:
32957046-32957046

C

T

intronic

De novo

-

Yuen2017 G

AKAP6

13825.p1

chr14:
32981815-32981815

A

G

intronic

De novo

-

Wilfert2021 G

AKAP6

1-0595-005

chr14:
33086217-33086217

C

A

intronic

De novo

-

Yuen2017 G

AKAP6

74-0355

chr14:
32758933-32758933

T

C

intergenic

Inherited

-

Michaelson2012 G

AKAP6

14093.p1

chr14:
32830259-32830259

C

CATATATATAT

intronic

De novo

-

Wilfert2021 G

AKAP6

A15

chr14:
32867315-32867315

C

T

intronic

De novo

-

Wu2018 G

AKAP6

1-0112-004

chr14:
33265665-33265665

G

A

intronic

De novo

-

Yuen2017 G

AKAP6

2-0197-004

chr14:
32916593-32916597

GTTCT

G

intronic

De novo

-

Yuen2017 G

AKAP6

2-0295-003

chr14:
32938567-32938567

G

A

intronic

De novo

-

Yuen2017 G

AKAP6

1-0673-003

chr14:
32837315-32837315

C

T

intronic

De novo

-

Yuen2017 G

AKAP6

1-0971-003

chr14:
33292525-33292525

A

T

exonic

De novo

nonsynonymous SNV

NM_004274

c.A5506T

p.M1836L

2.866

-

Yuen2017 G

AKAP6

AU043804

chr14:
33153460-33153460

C

T

intronic

De novo

-

Yuen2017 G

AKAP6

1-0290-003

chr14:
32821889-32821889

A

G

intronic

De novo

-

Yuen2017 G

AKAP6

AU4433301

chr14:
32851251-32851251

C

T

intronic

De novo

-

Yuen2017 G

AKAP6

7-0077-003

chr14:
33278363-33278363

A

G

intronic

De novo

-

Yuen2017 G

AKAP6

2-0503-004

chr14:
33030373-33030373

A

AT

intronic

De novo

-

Yuen2017 G

AKAP6

2-1362-003

chr14:
33258115-33258115

C

A

intronic

De novo

-

Yuen2017 G

AKAP6

11685.p1

chr14:
33201692-33201692

G

A

exonic

Mosaic

synonymous SNV

NM_004274

c.G3033A

p.L1011L

-

Krupp2017 E

AKAP6

AU4197301

chr14:
32799183-32799183

G

A

intronic

De novo

-

Yuen2017 G

AKAP6

AU3858302

chr14:
32807134-32807134

G

A

intronic

De novo

-

Yuen2017 G

AKAP6

AU3190305

chr14:
32934155-32934155

A

G

intronic

De novo

-

Yuen2017 G

AKAP6

3-0111-000

chr14:
33201220-33201220

A

T

intronic

De novo

-

Yuen2016 G

AKAP6

AU2495301

chr14:
33269431-33269459

CATATACAAAAATATATATATACAAAAAT

CATATACAAAAAT

intronic

De novo

-

Yuen2017 G

AKAP6

AU4033305

chr14:
32681573-32681573

C

G

intergenic

De novo

-

Yuen2017 G

AKAP6

2-1254-003

chr14:
33201116-33201116

T

C

intronic

De novo

-

Yuen2016 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