Variant Results

or

Results for "ADCY9"

Variant Events: 32

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

ADCY9

217-14191-3150

chr16:
4016591-4016591

G

A

exonic

Unknown

nonsynonymous SNV

NM_001116

c.C3247T

p.R1083W

20.6

8.237E-6

Stessman2017 T

ADCY9

2-1155-003

chr16:
4078338-4078338

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ADCY9

TRE_1723

chr16:
4163965-4163965

G

T

exonic

De novo

synonymous SNV

NM_001116

c.C1479A

p.G493G

-

Fu2022 E

ADCY9

80001102261

chr16:
4164084-4164084

G

A

exonic

De novo

nonsynonymous SNV

NM_001116

c.C1360T

p.P454S

19.18

-

Fu2022 E

ADCY9

1-0246-004

chr16:
4109854-4109854

G

A

intronic

De novo

-

Yuen2017 G

ADCY9

M21743

chr16:
4016168-4016168

C

T

exonic

Maternal

nonsynonymous SNV

NM_001116

c.G3670A

p.D1224N

32.0

-

Guo2018 T
Wang2016 T

ADCY9

AU4029302

chr16:
4197819-4197819

G

T

intergenic

De novo

-

Yuen2017 G

ADCY9

AU2793302

chr16:
4205241-4205241

G

C

intergenic

De novo

-

Yuen2017 G

ADCY9

11717.p1

chr16:
4165336-4165337

CT

C

exonic

De novo

frameshift deletion

NM_001116

c.107delA

p.Q36fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

ADCY9

1-0219-003

chr16:
4078302-4078302

C

T

intronic

De novo

-

Yuen2017 G

ADCY9

E9L8X

chr16:
4165128-4165129

CC

C

exonic

Inherited

frameshift deletion

NM_001116

c.315delG

p.L105fs

-

Stessman2017 T

ADCY9

5-0128-003

chr16:
4229138-4229138

G

T

intergenic

De novo

-

Yuen2017 G

ADCY9

AU4186302

chr16:
4044777-4044777

G

A

intronic

De novo

-

Yuen2017 G

ADCY9

2-1605-004

chr16:
4047949-4047949

G

GTGTGTGTGCCA

intronic

De novo

-

Yuen2017 G

ADCY9

2-0110-003

chr16:
4061234-4061234

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ADCY9

2-0110-003

chr16:
4055326-4055326

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ADCY9

3-0430-000

chr16:
4183360-4183360

C

G

intergenic

De novo

-

Yuen2016 G

ADCY9

SP0124113

chr16:
4165503-4165503

G

A

intronic

De novo

-

Fu2022 E

ADCY9

07C65175

chr16:
4016845-4016845

C

T

exonic

Unknown

nonsynonymous SNV

NM_001116

c.G2993A

p.R998H

22.9

2.479E-5

Stessman2017 T

ADCY9

SP0036020

chr16:
4029255-4029255

G

A

exonic

De novo

synonymous SNV

NM_001116

c.C2541T

p.D847D

-

6.637E-5

Fu2022 E

ADCY9

3-0428-000

chr16:
4034892-4034892

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ADCY9

SP0047317

chr16:
4016663-4016663

C

A

exonic

De novo

nonsynonymous SNV

NM_001116

c.G3175T

p.V1059L

27.9

-

Fu2022 E

ADCY9

1-0708-003

chr16:
4150570-4150570

G

A

intronic

De novo

-

Yuen2017 G

ADCY9

1-0139-003

chr16:
4125885-4125885

T

G

intronic

De novo

-

Yuen2017 G

ADCY9

M08509

chr16:
4027549-4027549

G

A

exonic

Paternal

nonsynonymous SNV

NM_001116

c.C2762T

p.S921F

31.0

-

Guo2018 T
Wang2016 T

ADCY9

2-0238-004

chr16:
4177589-4177589

A

AATGGTTATGGTG

intergenic

De novo

-

Yuen2017 G

ADCY9

iHART1617

chr16:
4015875-4015877

CCT

C

exonic

Maternal

frameshift deletion

NM_001116

c.3961_3962del

p.R1321fs

-

Ruzzo2019 G

ADCY9

2-1269-003

chr16:
4214241-4214241

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADCY9

1-0121-003

chr16:
4142513-4142513

C

G

intronic

De novo

-

Yuen2017 G

ADCY9

1-0121-003

chr16:
4142040-4142040

C

T

intronic

De novo

-

Yuen2017 G

ADCY9

iHART1271

chr16:
4164006-4164006

T

A

exonic

Maternal

stopgain

NM_001116

c.A1438T

p.K480X

46.0

-

Ruzzo2019 G

ADCY9

M08862

chr16:
4016224-4016224

C

T

exonic

Paternal

nonsynonymous SNV

NM_001116

c.G3614A

p.R1205H

31.0

8.238E-6

Guo2018 T
Wang2016 T

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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