Variant Results

or

Results for "AKAP9"

Variant Events: 45

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

AKAP9

14474_p1

chr7:
91726153-91726153

C

T

exonic

De novo

stopgain

NM_005751
NM_147185

c.C9880T
c.C9856T

p.R3294X
p.R3286X

52.0

1.648E-5

Fu2022 E

AKAP9

SJD_59.3

chr7:
91737488-91737488

G

C

intronic

De novo

-

Trost2022 G

AKAP9

Wang2023:37

chr7:
91708756-91708756

C

T

exonic

De novo

nonsynonymous SNV

NM_005751
NM_147185

c.C7309T
c.C7285T

p.R2437C
p.R2429C

2.047

1.662E-5

Wang2023 E

AKAP9

MSSNG00257-003

chr7:
91715331-91715331

G

T

intronic

De novo

-

Trost2022 G

AKAP9

5-5131-003

chr7:
91736448-91736448

A

G

intronic

De novo

-

Trost2022 G

AKAP9

J4K7A_01

chr7:
91696825-91696825

T

C

intronic

De novo

-

Trost2022 G

AKAP9

11497.p1

chr7:
91671478-91671478

G

A

exonic

De novo

nonsynonymous SNV

NM_005751
NM_147185

c.G5036A
c.G5036A

p.R1679H
p.R1679H

14.49

2.477E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

AKAP9

1-0169-004

chr7:
91703428-91703450

CTATCCATCTGACAAAGGGCTAA

C

intronic

De novo

-

Trost2022 G

AKAP9

14474.p1

chr7:
91726153-91726153

C

T

exonic

De novo

stopgain

NM_005751
NM_147185

c.C9880T
c.C9856T

p.R3294X
p.R3286X

52.0

1.648E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

AKAP9

3-0109-000

chr7:
91679491-91679491

G

A

intronic

De novo

-

Trost2022 G

AKAP9

4-0009-003

chr7:
91683147-91683147

C

G

intronic

De novo

-

Trost2022 G

AKAP9

MT_160

chr7:
91630490-91630490

A

G

exonic

Maternal

nonsynonymous SNV

NM_005751
NM_147185

c.A1259G
c.A1259G

p.Q420R
p.Q420R

8.868

3.334E-5

Toma2013 E

AKAP9

AU4212303

chr7:
91600572-91600572

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AKAP9

iHART3184

chr7:
91709008-91709012

CAAAT

C

exonic

Paternal

frameshift deletion

NM_005751
NM_147185

c.7562_7565del
c.7538_7541del

p.Q2521fs
p.Q2513fs

-

Ruzzo2019 G

AKAP9

iHART3116

chr7:
91643604-91643604

C

T

exonic

De novo

stopgain

NM_005751
NM_147185

c.C3574T
c.C3574T

p.Q1192X
p.Q1192X

42.0

-

Ruzzo2019 G

AKAP9

Wang2023:882

chr7:
91694652-91694652

G

A

exonic

De novo

nonsynonymous SNV

NM_005751
NM_147185

c.G6085A
c.G6085A

p.D2029N
p.D2029N

22.3

-

Wang2023 E

AKAP9

SP0010751

chr7:
91630601-91630601

T

A

exonic

De novo

nonsynonymous SNV

NM_005751
NM_147185

c.T1370A
c.T1370A

p.M457K
p.M457K

1.299

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AKAP9

1-0171-005

chr7:
91624399-91624399

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AKAP9

AU003406

chr7:
91670183-91670183

A

G

exonic

De novo

nonsynonymous SNV

NM_005751
NM_147185

c.A4888G
c.A4888G

p.I1630V
p.I1630V

14.91

-

Yuen2017 G
Zhou2022 GE

AKAP9

SP0085401

chr7:
91709113-91709113

G

T

exonic

De novo

nonsynonymous SNV

NM_005751
NM_147185

c.G7666T
c.G7642T

p.V2556F
p.V2548F

14.69

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AKAP9

MSSNG00441-003

chr7:
91631063-91631067

TAGAC

T

exonic

De novo

frameshift deletion

NM_005751
NM_147185

c.1833_1836del
c.1833_1836del

p.L611fs
p.L611fs

-

Trost2022 G
Zhou2022 GE

AKAP9

1-0253-005

chr7:
91732584-91732584

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AKAP9

2469_17au

chr7:
91669929-91669929

A

G

intronic

De novo

-

Fu2022 E

AKAP9

7-0166-003

chr7:
91709401-91709401

G

A

exonic

De novo

nonsynonymous SNV

NM_005751
NM_147185

c.G7954A
c.G7930A

p.G2652S
p.G2644S

1.7

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

AKAP9

HI0085

chr7:
91603283-91603283

G

A

splicing

De novo

splicing

15.14

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

AKAP9

mAGRE5086

chr7:
91690593-91690597

CACAG

C

exonic

Paternal

frameshift deletion

NM_005751
NM_147185

c.5622_5625del
c.5622_5625del

p.T1874fs
p.T1874fs

-

8.255E-6

Cirnigliaro2023 G

AKAP9

mAGRE3116

chr7:
91643604-91643604

C

T

exonic

De novo

stopgain

NM_005751
NM_147185

c.C3574T
c.C3574T

p.Q1192X
p.Q1192X

42.0

-

Cirnigliaro2023 G

AKAP9

mAGRE4986

chr7:
91632049-91632049

G

T

exonic

Maternal

stopgain

NM_005751
NM_147185

c.G2818T
c.G2818T

p.E940X
p.E940X

41.0

-

Cirnigliaro2023 G

AKAP9

2-0286-003

chr7:
91584142-91584147

CACTTT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AKAP9

mAGRE4337

chr7:
91624920-91624920

C

T

exonic

Paternal

stopgain

NM_005751
NM_147185

c.C736T
c.C736T

p.Q246X
p.Q246X

19.37

8.328E-6

Cirnigliaro2023 G

AKAP9

3-0216-000

chr7:
91606596-91606596

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AKAP9

1-0669-003

chr7:
91693969-91693969

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AKAP9

AU3779302

chr7:
91709008-91709012

CAAAT

C

exonic

Paternal

frameshift deletion

NM_005751
NM_147185

c.7562_7565del
c.7538_7541del

p.Q2521fs
p.Q2513fs

-

Cirnigliaro2023 G

AKAP9

1-0965-003

chr7:
91719910-91719910

T

A

intronic

De novo

-

Yuen2017 G

AKAP9

SSC01991

chr7:
91671478-91671478

G

A

exonic

De novo

nonsynonymous SNV

NM_005751
NM_147185

c.G5036A
c.G5036A

p.R1679H
p.R1679H

14.49

2.477E-5

Fu2022 E
Lim2017 E
Trost2022 G

AKAP9

mAGRE5087

chr7:
91690593-91690597

CACAG

C

exonic

Paternal

frameshift deletion

NM_005751
NM_147185

c.5622_5625del
c.5622_5625del

p.T1874fs
p.T1874fs

-

8.255E-6

Cirnigliaro2023 G

AKAP9

1-0985-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

AKAP9

3-0114-000

chr7:
91656301-91656301

T

C

intronic

De novo

-

Trost2022 G

AKAP9

NDAR_INVBV470GWQ_wes1

chr7:
91691610-91691610

T

A

exonic

De novo

nonsynonymous SNV

NM_005751
NM_147185

c.T5787A
c.T5787A

p.D1929E
p.D1929E

16.05

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

AKAP9

MSSNG00411-003

chr7:
91659728-91659728

G

T

intronic

De novo

-

Trost2022 G

AKAP9

1-1233-003

chr7:
91641606-91641606

C

T

intronic

De novo

-

Trost2022 G

AKAP9

2-1511-003

chr7:
91656269-91656269

G

A

intronic

De novo

-

Trost2022 G

AKAP9

1-0332-003

chr7:
91600830-91600830

A

G

intronic

De novo

-

Trost2022 G

AKAP9

SP0169452

chr7:
91621507-91621507

G

A

exonic

De novo

synonymous SNV

NM_005751
NM_147185

c.G387A
c.G387A

p.K129K
p.K129K

-

Trost2022 G

AKAP9

5-0086-003

chr7:
91595465-91595465

C

T

intronic

De novo

-

Trost2022 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
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