Variant Results

or

Results for "ADGRB1"

Variant Events: 26

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

ADGRB1

AU3801301

chr8:
143547852-143547852

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADGRB1

AU3764302

chr8:
143601395-143601402

ATGGTGGT

ATGGT

intronic

De novo

-

Yuen2017 G

ADGRB1

SSC08014

chr8:
143605599-143605599

C

G

exonic

De novo

stopgain

NM_001702

c.C3246G

p.Y1082X

42.0

-

Fu2022 E
Lim2017 E
Trost2022 G

ADGRB1

2-1511-003

chr8:
143545613-143545631

ACTGCTGCTGCTGCTGCTG

ACTGCTGCTGCTGCTG

exonic

De novo

nonframeshift deletion

NM_001702

c.70_72del

p.24_24del

-

Yuen2017 G

ADGRB1

SP0001539

chr8:
143546366-143546366

T

C

intronic

De novo

-

Fu2022 E

ADGRB1

1-0277-003

chr8:
143675084-143675084

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRB1

142444

chr8:
143558712-143558712

G

A

intronic

De novo

-

8.873E-6

Satterstrom2020 E
Trost2022 G

ADGRB1

Wang2023:816

chr8:
143545645-143545645

G

C

exonic

De novo

nonsynonymous SNV

NM_001702

c.G86C

p.R29P

11.24

-

Wang2023 E

ADGRB1

2-1167-003

chr8:
143548546-143548546

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ADGRB1

F10340-1

chr8:
143618370-143618370

G

A

exonic

De novo

nonsynonymous SNV

NM_001702

c.G3593A

p.R1198H

32.0

5.747E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ADGRB1

AU2139305

chr8:
143601395-143601402

ATGGTGGT

ATGGT

intronic

De novo

-

Yuen2017 G

ADGRB1

14437.p1

chr8:
143648735-143648735

G

C

intergenic

De novo

-

Wilfert2021 G

ADGRB1

MSSNG00057-003

chr8:
143618459-143618459

C

G

intronic

De novo

-

Trost2022 G

ADGRB1

AU3861302

chr8:
143677115-143677115

C

T

intergenic

De novo

-

Yuen2017 G

ADGRB1

68591

chr8:
143604104-143604104

C

T

intronic

De novo

-

Trost2022 G

ADGRB1

REACH000431

chr8:
143609783-143609783

T

C

intronic

De novo

-

Trost2022 G

ADGRB1

AU1448303

chr8:
143583728-143583728

G

A

intronic

De novo

-

Trost2022 G

ADGRB1

MSSNG00379-003

chr8:
143584131-143584134

ATGT

A

intronic

De novo

-

Trost2022 G

ADGRB1

1-0634-003

chr8:
143579809-143579809

G

C

intronic

De novo

-

Trost2022 G

ADGRB1

11463.p1

chr8:
143604104-143604104

C

T

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

ADGRB1

13634.p1

chr8:
143605599-143605599

C

G

exonic

De novo

stopgain

NM_001702

c.C3246G

p.Y1082X

42.0

-

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

ADGRB1

2-1163-003

chr8:
143687515-143687515

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRB1

JASD_Fam0012

chr8:
143592361-143592361

A

G

exonic

De novo

nonsynonymous SNV

NM_001702

c.A2744G

p.D915G

15.3

-

Takata2018 E

ADGRB1

SMHC01758s000

chr8:
143599521-143599521

C

T

exonic

De novo

nonsynonymous SNV

NM_001702

c.C2840T

p.P947L

19.7

-

Yuan2023 E

ADGRB1

AU2381302

chr8:
143653258-143653258

G

A

intergenic

De novo

-

Yuen2017 G

ADGRB1

SP0106389

chr8:
143562656-143562656

G

A

exonic

De novo

nonsynonymous SNV

NM_001702

c.G1870A

p.A624T

31.0

8.295E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

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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