Variant Results

or

Results for "ADCY8"

Variant Events: 76

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

ADCY8

AU4211304

chr8:
132297082-132297082

C

T

intergenic

De novo

-

Yuen2017 G

ADCY8

AU055004

chr8:
132758232-132758232

C

G

intergenic

De novo

-

Yuen2017 G

ADCY8

2-0028-003

chr8:
131951816-131951816

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ADCY8

AU3764302

chr8:
132614608-132614608

G

A

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0158-003

chr8:
132015977-132015977

C

G

intronic

De novo

-

Yuen2017 G

ADCY8

1-0286-004

chr8:
132357622-132357622

C

T

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0353-003

chr8:
132190754-132190754

T

C

intergenic

De novo

-

Yuen2017 G

ADCY8

AU3997302

chr8:
132205357-132205357

T

A

intergenic

De novo

-

Yuen2017 G

ADCY8

AU1995302

chr8:
132083095-132083097

CAT

C

intergenic

De novo

-

Yuen2017 G

ADCY8

3-0458-000B

chr8:
132645857-132645857

C

T

intergenic

De novo

-

Yuen2017 G

ADCY8

AU2035302

chr8:
132787594-132787594

A

T

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0513-003

chr8:
132150469-132150469

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADCY8

SP0006011

chr8:
131859820-131859820

G

A

intronic

De novo

-

Fu2022 E

ADCY8

1-0591-003

chr8:
132446783-132446783

G

A

intergenic

De novo

-

Yuen2017 G

ADCY8

AU3997302

chr8:
132205360-132205360

T

A

intergenic

De novo

-

Yuen2017 G

ADCY8

AU3997302

chr8:
132206489-132206489

C

A

intergenic

De novo

-

Yuen2017 G

ADCY8

AU4015302

chr8:
132688815-132688815

C

A

intergenic

De novo

-

Yuen2017 G

ADCY8

SJD_10

chr8:
131921998-131921998

C

T

exonic

Paternal

stopgain

NM_001115

c.G1596A

p.W532X

54.0

-

Toma2013 E

ADCY8

AU024105

chr8:
131961241-131961241

G

T

intronic

De novo

-

Yuen2017 G

ADCY8

3589_17au

chr8:
131848632-131848632

C

T

exonic

De novo

nonsynonymous SNV

NM_001115

c.G2566A

p.V856I

3.508

2.0E-4

Fu2022 E

ADCY8

2-1251-003

chr8:
132578949-132578949

A

G

intergenic

De novo

-

Yuen2017 G

ADCY8

5-0014-004

chr8:
132762137-132762137

G

A

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0049-004

chr8:
132476161-132476161

C

T

intergenic

De novo

-

Yuen2017 G

ADCY8

AU056005

chr8:
132007909-132007909

C

G

intronic

De novo

-

Yuen2017 G

ADCY8

AU3695303

chr8:
132784663-132784663

G

T

intergenic

De novo

-

Yuen2017 G

ADCY8

2-1737-003

chr8:
132501600-132501600

T

C

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0138-004

chr8:
132353794-132353794

T

C

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0265-004

chr8:
132339018-132339018

C

CAAAACAAAAACAAGAACACAGAAAAT

intergenic

De novo

-

Yuen2017 G

ADCY8

2-1290-003

chr8:
131816911-131816911

A

G

intronic

De novo

-

Yuen2017 G

ADCY8

5-0106-003

chr8:
132072420-132072420

G

A

intergenic

De novo

-

Yuen2017 G

ADCY8

AU072004

chr8:
132516751-132516751

A

C

intergenic

De novo

-

Yuen2017 G

ADCY8

AU2035301

chr8:
132787594-132787594

A

T

intergenic

De novo

-

Yuen2017 G

ADCY8

7-0192-003

chr8:
132850900-132850900

A

C

intergenic

De novo

-

Yuen2017 G

ADCY8

14069.p1

chr8:
131949457-131949457

C

A

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

ADCY8

AU3702306

chr8:
132817019-132817019

G

C

intergenic

De novo

-

Yuen2017 G

ADCY8

AU3905301

chr8:
132487286-132487286

C

T

intergenic

De novo

-

Yuen2017 G

ADCY8

2-1327-004

chr8:
132867885-132867885

A

G

intergenic

De novo

-

Yuen2017 G

ADCY8

SP0129049

chr8:
131922141-131922141

A

G

intronic

De novo

-

Fu2022 E

ADCY8

3-0458-000A

chr8:
132645857-132645857

C

T

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0271-004

chr8:
132806318-132806318

G

A

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0271-004

chr8:
132353794-132353794

T

C

intergenic

De novo

-

Yuen2017 G

ADCY8

AU1404302

chr8:
132076178-132076178

C

A

intergenic

De novo

-

Yuen2017 G

ADCY8

2-0132-004

chr8:
132353794-132353794

T

C

intergenic

De novo

-

Yuen2017 G

ADCY8

2-1594-003

chr8:
132073416-132073416

T

C

intergenic

De novo

-

Yuen2017 G

ADCY8

2-0285-003

chr8:
132480066-132480066

T

C

intergenic

De novo

-

Yuen2017 G

ADCY8

AU3808304

chr8:
132229672-132229672

T

C

intergenic

De novo

-

Yuen2017 G

ADCY8

AU2863302

chr8:
132425233-132425233

G

A

intergenic

De novo

-

Yuen2017 G

ADCY8

2-1094-005

chr8:
132353794-132353794

T

C

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0507-003

chr8:
132119474-132119474

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADCY8

AU3912303

chr8:
132797183-132797183

A

C

intergenic

De novo

-

Yuen2017 G

ADCY8

AU4468301

chr8:
131840235-131840235

C

A

intronic

De novo

-

Yuen2017 G

ADCY8

1-0073-003

chr8:
132754719-132754719

G

T

intergenic

De novo

-

Yuen2017 G

ADCY8

5-0105-003

chr8:
132768409-132768411

TAA

TAAA

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0073-003

chr8:
132751838-132751838

C

T

intergenic

De novo

-

Yuen2017 G

ADCY8

AU079104

chr8:
131815609-131815609

C

A

intronic

De novo

-

Yuen2017 G

ADCY8

1-0674-004

chr8:
132892215-132892215

G

A

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0494-003

chr8:
132353828-132353828

A

G

intergenic

De novo

-

Yuen2017 G

ADCY8

7-0251-003

chr8:
132732317-132732317

G

A

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0973-003

chr8:
132741387-132741387

G

A

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0171-005

chr8:
132119711-132119711

A

G

intergenic

De novo

-

Yuen2017 G

ADCY8

2-0238-004

chr8:
131821631-131821631

T

C

intronic

De novo

-

Yuen2017 G

ADCY8

AU4479301

chr8:
132577291-132577293

TAA

TA

intergenic

De novo

-

Yuen2017 G

ADCY8

2-0109-003

chr8:
132571746-132571746

A

G

intergenic

De novo

-

Yuen2017 G

ADCY8

AU3716302

chr8:
132624013-132624013

G

C

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0191-004

chr8:
132353794-132353794

T

C

intergenic

De novo

-

Yuen2017 G

ADCY8

2-0129-005

chr8:
132448634-132448634

T

G

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0329-004

chr8:
132587310-132587310

C

T

intergenic

De novo

-

Yuen2017 G

ADCY8

AU3716302

chr8:
132479584-132479584

T

C

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0972-003

chr8:
132706141-132706141

A

G

intergenic

De novo

-

Yuen2017 G

ADCY8

2-1444-003

chr8:
131819789-131819789

C

A

intronic

De novo

-

Yuen2017 G

ADCY8

2-1313-003

chr8:
132792721-132792721

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADCY8

AU2951303

chr8:
132573321-132573321

A

C

intergenic

De novo

-

Yuen2017 G

ADCY8

1-0244-003

chr8:
132735308-132735308

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADCY8

AU2140305

chr8:
132154890-132154890

A

G

intergenic

De novo

-

Yuen2017 G

ADCY8

AU2951302

chr8:
132573321-132573321

A

C

intergenic

De novo

-

Yuen2017 G

ADCY8

AU4007301

chr8:
132722226-132722226

G

C

intergenic

De novo

-

Yuen2017 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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