Variant Results

or

Results for "ADGRB3"

Variant Events: 70

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

ADGRB3

1-0651-003

chr6:
70073807-70073807

C

A

intronic

De novo

-

Yuen2017 G

ADGRB3

1-0593-003

chr6:
69770617-69770617

T

C

intronic

De novo

-

Yuen2017 G

ADGRB3

AU2787301

chr6:
69976069-69976069

C

T

intronic

De novo

-

Yuen2017 G

ADGRB3

AU1698302

chr6:
69986202-69986202

A

C

intronic

De novo

-

Yuen2017 G

ADGRB3

5-0045-003

chr6:
69513428-69513428

A

G

intronic

De novo

-

Yuen2017 G

ADGRB3

AU076509

chr6:
69604882-69604882

C

A

intronic

De novo

-

Yuen2017 G

ADGRB3

2-1729-003

chr6:
70294744-70294744

C

T

intergenic

De novo

-

Yuen2017 G

ADGRB3

AU4365302

chr6:
70161141-70161141

C

G

intergenic

De novo

-

Yuen2017 G

ADGRB3

AU028305

chr6:
70342334-70342334

G

A

intergenic

De novo

-

Yuen2017 G

ADGRB3

AU076509

chr6:
69601840-69601840

C

A

intronic

De novo

-

Yuen2017 G

ADGRB3

2-1434-003

chr6:
70031161-70031161

A

G

intronic

De novo

-

Yuen2017 G

ADGRB3

AU056803

chr6:
70362926-70362930

AATTA

AA

intergenic

De novo

-

Yuen2017 G

ADGRB3

1-0435-003

chr6:
69646362-69646362

A

G

intronic

De novo

-

Yuen2017 G

ADGRB3

1-0625-003

chr6:
69774179-69774179

T

C

intronic

De novo

-

Yuen2017 G

ADGRB3

7-0192-003

chr6:
69689921-69689921

A

G

intronic

De novo

-

Yuen2017 G

ADGRB3

AU3765303

chr6:
69918106-69918106

C

T

intronic

De novo

-

Yuen2017 G

ADGRB3

1-0079-003

chr6:
69543899-69543899

G

GCTTA

intronic

De novo

-

Yuen2017 G

ADGRB3

1-0826-003

chr6:
69589433-69589433

T

C

intronic

De novo

-

Yuen2017 G

ADGRB3

AU038703

chr6:
69707219-69707219

G

A

intronic

De novo

-

Yuen2017 G

ADGRB3

AU4473301

chr6:
70232096-70232096

T

C

intergenic

De novo

-

Yuen2017 G

ADGRB3

AU4359301

chr6:
70017942-70017942

G

A

intronic

De novo

-

Yuen2017 G

ADGRB3

2-1250-003

chr6:
69810696-69810696

A

AGG

intronic

De novo

-

Yuen2017 G

ADGRB3

2-0304-004

chr6:
69759608-69759608

G

C

intronic

De novo

-

Yuen2017 G

ADGRB3

2-1506-003

chr6:
69982328-69982328

T

C

intronic

De novo

-

Yuen2017 G

ADGRB3

2-1292-004

chr6:
70292895-70292895

G

A

intergenic

De novo

-

Yuen2017 G

ADGRB3

1-0271-003

chr6:
69683451-69683451

A

C

intronic

De novo

-

Yuen2017 G

ADGRB3

10C109058

chr6:
69666660-69666660

C

T

exonic

De novo

nonsynonymous SNV

NM_001704

c.C1484T

p.T495M

14.12

3.296E-5

Fu2022 E
Satterstrom2020 E

ADGRB3

SSC04978

chr6:
70034815-70034815

T

A

exonic

De novo

nonsynonymous SNV

NM_001704

c.T2866A

p.F956I

35.0

-

Antaki2022 GE
Fu2022 E

ADGRB3

2-0016-003

chr6:
70068813-70068828

GTATATATATATATAT

GTATATATATATAT

intronic

De novo

-

Yuen2017 G

ADGRB3

2-0713-003

chr6:
69757536-69757536

T

A

intronic

De novo

-

Yuen2017 G

ADGRB3

2-1127-003

chr6:
69819095-69819095

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRB3

2-1689-003

chr6:
70334283-70334283

T

C

intergenic

De novo

-

Yuen2017 G

ADGRB3

1-0490-003

chr6:
69535456-69535456

C

G

intronic

De novo

-

Yuen2017 G

ADGRB3

1-0518-003

chr6:
69462639-69462639

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRB3

1-0067-004

chr6:
69503319-69503321

ATC

A

intronic

De novo

-

Yuen2017 G

ADGRB3

SP0007745

chr6:
70048916-70048916

A

G

intronic

De novo

-

Fu2022 E

ADGRB3

SP0031421

chr6:
69349303-69349303

G

T

exonic

De novo

nonsynonymous SNV

NM_001704

c.G736T

p.A246S

12.99

-

Fu2022 E

ADGRB3

MT_160

chr6:
69685183-69685183

C

T

exonic

Maternal

nonsynonymous SNV

NM_001704

c.C1685T

p.P562L

31.0

-

Toma2013 E

ADGRB3

11002.p1

chr6:
69509532-69509532

A

G

intronic

De novo

-

Turner2016 G

ADGRB3

1-0547-003

chr6:
69840522-69840522

G

C

intronic

De novo

-

Yuen2017 G

ADGRB3

7-0082-003

chr6:
69810696-69810696

A

AGG

intronic

De novo

-

Yuen2017 G

ADGRB3

3-0391-000

chr6:
69422659-69422659

T

G

intronic

De novo

-

Yuen2017 G

ADGRB3

2-1632-003

chr6:
69447838-69447838

G

A

intronic

De novo

-

Yuen2017 G

ADGRB3

1-0756-003

chr6:
69663044-69663044

A

T

intronic

De novo

-

Yuen2017 G

ADGRB3

5-0015-004

chr6:
69373947-69373947

G

A

intronic

De novo

-

Yuen2017 G

ADGRB3

AU3713301

chr6:
70019988-70019988

A

T

intronic

De novo

-

Yuen2017 G

ADGRB3

AU075803

chr6:
69702393-69702393

G

A

intronic

De novo

-

Yuen2017 G

ADGRB3

AU4284301

chr6:
69542296-69542296

C

T

intronic

De novo

-

Yuen2017 G

ADGRB3

AU3649304

chr6:
70274333-70274333

C

T

intergenic

De novo

-

Yuen2017 G

ADGRB3

5-0146-003

chr6:
70139903-70139903

A

G

intergenic

De novo

-

Yuen2017 G

ADGRB3

AU4463303

chr6:
69643002-69643002

A

C

intronic

De novo

-

Yuen2017 G

ADGRB3

1-0171-005

chr6:
70200333-70200333

C

G

intergenic

De novo

-

Yuen2017 G

ADGRB3

1-0986-003

chr6:
69348649-69348649

T

A

exonic

De novo

nonsynonymous SNV

NM_001704

c.T82A

p.F28I

14.66

-

Yuen2017 G

ADGRB3

AU056804

chr6:
69696369-69696369

C

A

intronic

De novo

-

Yuen2017 G

ADGRB3

1572023

chr6:
69666672-69666672

T

G

exonic

De novo

nonsynonymous SNV

NM_001704

c.T1496G

p.V499G

16.93

-

Fu2022 E
Satterstrom2020 E

ADGRB3

12550.p1

chr6:
70034815-70034815

T

A

exonic

De novo

nonsynonymous SNV

NM_001704

c.T2866A

p.F956I

35.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

ADGRB3

1-0303-004

chr6:
70062915-70062915

G

A

intronic

De novo

-

Yuen2017 G

ADGRB3

AU3761301

chr6:
69660013-69660013

T

A

intronic

De novo

-

Yuen2017 G

ADGRB3

AU056204

chr6:
69908329-69908329

T

G

intronic

De novo

-

Yuen2017 G

ADGRB3

1-0582-003

chr6:
69999391-69999391

C

T

intronic

De novo

-

Yuen2017 G

ADGRB3

2-1252-003

chr6:
70280966-70280966

A

C

intergenic

De novo

-

Yuen2017 G

ADGRB3

AU073003

chr6:
69755701-69755701

T

C

intronic

De novo

-

Yuen2017 G

ADGRB3

1-0353-003

chr6:
69768286-69768286

A

T

intronic

De novo

-

Yuen2017 G

ADGRB3

2-1086-004

chr6:
70132918-70132918

C

T

intergenic

De novo

-

Yuen2017 G

ADGRB3

AU4069302

chr6:
70018257-70018257

A

G

intronic

De novo

-

Yuen2017 G

ADGRB3

AU076704

chr6:
69472261-69472261

C

T

intronic

De novo

-

Yuen2017 G

ADGRB3

2-1129-003

chr6:
70154961-70154961

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRB3

EGAN00001101298

chr6:
69942475-69942475

C

T

intronic

De novo

1.329

-

Fu2022 E
Satterstrom2020 E

ADGRB3

1-0144-005

chr6:
69810696-69810696

A

AGG

intronic

De novo

-

Yuen2017 G

ADGRB3

AU3937301

chr6:
69755135-69755135

A

C

intronic

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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