Variant Results

or

Results for "AKAP12"

Variant Events: 38

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

AKAP12

AU3907301

chr6:
151607099-151607099

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AKAP12

2-1428-003

chr6:
151658437-151658437

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AKAP12

AU058105

chr6:
151655055-151655055

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AKAP12

SP0103443

chr6:
151561680-151561680

G

A

UTR5

De novo

-

Fu2022 E
Trost2022 G

AKAP12

5-0110-003

chr6:
151609382-151609382

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AKAP12

2-0319-004

chr6:
151562225-151562225

A

G

intronic

De novo

-

Yuen2017 G

AKAP12

1-0358-003

chr6:
151655896-151655896

A

ACAGGCGC

intronic

De novo

-

Yuen2017 G

AKAP12

PN400104

chr6:
151672537-151672537

C

T

exonic

Unknown

nonsynonymous SNV

NM_144497
NM_005100

c.C2717T
c.C3011T

p.S906L
p.S1004L

28.4

1.65E-5

Leblond2019 E

AKAP12

AU4237304

chr6:
151671438-151671438

G

A

exonic

De novo

nonsynonymous SNV

NM_144497
NM_005100

c.G1618A
c.G1912A

p.V540I
p.V638I

14.5

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

AKAP12

1-0384-003

chr6:
151610723-151610723

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AKAP12

14015.p1

chr6:
151578105-151578105

A

T

intronic

De novo

-

Turner2016 G

AKAP12

14015.p1

chr6:
151578108-151578108

T

A

intronic

De novo

-

Turner2016 G

AKAP12

3-0352-000

chr6:
151586173-151586173

C

CT

intronic

De novo

-

Trost2022 G

AKAP12

14015.p1

chr6:
151578102-151578102

T

A

intronic

De novo

-

Turner2016 G

AKAP12

AU066403

chr6:
151667843-151667843

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AKAP12

MSSNG00440-003

chr6:
151671263-151671263

G

A

exonic

De novo

synonymous SNV

NM_144497
NM_005100

c.G1443A
c.G1737A

p.L481L
p.L579L

-

Trost2022 G
Zhou2022 GE

AKAP12

PN400266

chr6:
151672537-151672537

C

T

exonic

Unknown

nonsynonymous SNV

NM_144497
NM_005100

c.C2717T
c.C3011T

p.S906L
p.S1004L

28.4

1.65E-5

Leblond2019 E

AKAP12

1-0287-003

chr6:
151634813-151634813

A

G

intronic

De novo

-

Trost2022 G

AKAP12

MSSNG00125-003

chr6:
151635388-151635388

C

T

intronic

De novo

-

Trost2022 G

AKAP12

1-0336-003

chr6:
151617833-151617833

C

A

intronic

De novo

-

Trost2022 G

AKAP12

3-0477-000

chr6:
151621006-151621006

C

T

intronic

De novo

-

Trost2022 G

AKAP12

1-0336-003

chr6:
151617815-151617818

AACG

GGCA

intronic

De novo

-

Trost2022 G

AKAP12

1-0336-003

chr6:
151617827-151617827

T

G

intronic

De novo

-

Trost2022 G

AKAP12

1-0450-003

chr6:
151577657-151577657

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AKAP12

AU3729301

chr6:
151683093-151683093

G

A

intergenic

De novo

-

Yuen2017 G

AKAP12

3-0534-000

chr6:
151601421-151601421

A

G

intronic

De novo

-

Trost2022 G

AKAP12

AU2718301

chr6:
151610748-151610748

A

G

intronic

De novo

-

Trost2022 G

AKAP12

SP0145671

chr6:
151670579-151670579

C

T

exonic

De novo

synonymous SNV

NM_144497
NM_005100

c.C759T
c.C1053T

p.T253T
p.T351T

-

2.495E-5

Trost2022 G

AKAP12

5021

chr6:
151670900-151670900

A

C

exonic

De novo

nonsynonymous SNV

NM_144497
NM_005100

c.A1080C
c.A1374C

p.E360D
p.E458D

15.5

-

Trost2022 G

AKAP12

7-0327-003

chr6:
151657051-151657051

C

A

intronic

De novo

-

Trost2022 G

AKAP12

3-0376-000

chr6:
151669088-151669088

C

T

intronic

De novo

-

Trost2022 G

AKAP12

7-0227-003

chr6:
151642160-151642160

T

C

intronic

De novo

-

Trost2022 G

AKAP12

MSSNG00030-004

chr6:
151649250-151649250

C

T

intronic

De novo

-

Trost2022 G

AKAP12

7-0227-003

chr6:
151642144-151642144

G

C

intronic

De novo

-

Trost2022 G

AKAP12

PN400277

chr6:
151672537-151672537

C

T

exonic

Unknown

nonsynonymous SNV

NM_144497
NM_005100

c.C2717T
c.C3011T

p.S906L
p.S1004L

28.4

1.65E-5

Leblond2019 E

AKAP12

7-0227-003

chr6:
151642152-151642152

T

C

intronic

De novo

-

Trost2022 G

AKAP12

PN400523

chr6:
151672537-151672537

C

T

exonic

Unknown

nonsynonymous SNV

NM_144497
NM_005100

c.C2717T
c.C3011T

p.S906L
p.S1004L

28.4

1.65E-5

Leblond2019 E

AKAP12

12378.p1

chr6:
151670900-151670900

A

C

exonic

De novo

nonsynonymous SNV

NM_144497
NM_005100

c.A1080C
c.A1374C

p.E360D
p.E458D

15.5

-

Satterstrom2020 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
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