Variant Results

or

Results for "ADGRL2"

Variant Events: 75

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

ADGRL2

2-1456-004

chr1:
83022813-83022813

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL2

AU2863303

chr1:
83025229-83025229

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL2

AU2427302

chr1:
82324642-82324642

T

G

intronic

De novo

-

Yuen2017 G

ADGRL2

AU1848302

chr1:
82259120-82259120

T

C

intronic

De novo

-

Yuen2017 G

ADGRL2

2-1451-003

chr1:
83012478-83012478

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL2

1-0458-003

chr1:
83071570-83071570

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL2

AU4122301

chr1:
82531771-82531771

C

G

intergenic

De novo

-

Yuen2017 G

ADGRL2

5-0131-003

chr1:
82261211-82261214

AAAC

A

intronic

De novo

-

Yuen2017 G

ADGRL2

1-0271-003

chr1:
82365772-82365772

C

T

intronic

De novo

-

Yuen2017 G

ADGRL2

Stessman2017:ASD-1702

chr1:
82450367-82450367

C

T

exonic

Unknown

nonsynonymous SNV

NM_001297705
NM_001297706
NM_012302
NM_001297704

c.C3332T
c.C3332T
c.C3332T
c.C3332T

p.T1111I
p.T1111I
p.T1111I
p.T1111I

28.7

-

Stessman2017 T

ADGRL2

2-0286-004

chr1:
82556453-82556453

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL2

2-1292-004

chr1:
82473684-82473684

T

TTCC

intergenic

De novo

-

Yuen2017 G

ADGRL2

2-1632-003

chr1:
83261617-83261617

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL2

1-0514-003

chr1:
82428716-82428716

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRL2

1-0354-006

chr1:
83381906-83381906

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL2

AU4013301

chr1:
83136886-83136886

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL2

Li2017:19628

chr1:
82445557-82445557

A

T

exonic

Unknown

nonsynonymous SNV

NM_001297705
NM_001297706
NM_012302
NM_001297704

c.A2975T
c.A2975T
c.A2975T
c.A2975T

p.N992I
p.N992I
p.N992I
p.N992I

16.94

-

Li2017 T

ADGRL2

2-0043-003

chr1:
82447330-82447330

A

G

intronic

De novo

-

Yuen2016 G

ADGRL2

2-0149-004

chr1:
82245493-82245493

C

G

intronic

De novo

-

Yuen2017 G

ADGRL2

2-1066-003

chr1:
82895244-82895244

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL2

1-0469-003

chr1:
83002769-83002769

T

G

intergenic

De novo

-

Yuen2017 G

ADGRL2

3-0391-000

chr1:
83021657-83021657

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL2

AU058105

chr1:
82935288-82935288

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL2

M18470

chr1:
82434986-82434986

G

A

exonic

Paternal

nonsynonymous SNV

NM_001297705
NM_001297706
NM_012302
NM_001297704

c.G2597A
c.G2597A
c.G2597A
c.G2597A

p.R866Q
p.R866Q
p.R866Q
p.R866Q

34.0

4.943E-5

Guo2018 T
Wang2016 T

ADGRL2

1-0513-003

chr1:
82918045-82918049

TGGGG

TGGGGG

intergenic

De novo

-

Yuen2017 G

ADGRL2

1-0701-003

chr1:
83421503-83421503

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL2

A17

chr1:
82814034-82814034

G

A

intergenic

De novo

-

Wu2018 G

ADGRL2

AU4315302

chr1:
82539288-82539288

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL2

13874.p1

chr1:
82558496-82558496

C

T

intergenic

De novo

-

Turner2016 G

ADGRL2

AU3635301

chr1:
82396464-82396464

C

A

intronic

De novo

-

Yuen2017 G

ADGRL2

1-0305-004

chr1:
82486002-82486002

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL2

2-1169-004

chr1:
82821626-82821626

C

A

intergenic

De novo

-

Yuen2017 G

ADGRL2

1-0885-003

chr1:
82686810-82686810

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL2

2-0299-005

chr1:
82927562-82927562

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL2

AU4237304

chr1:
83325780-83325780

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL2

1-0453-003

chr1:
82608471-82608471

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL2

U6G2J

chr1:
82435043-82435043

T

C

exonic

Unknown

nonsynonymous SNV

NM_001297705
NM_001297706
NM_012302
NM_001297704

c.T2654C
c.T2654C
c.T2654C
c.T2654C

p.L885P
p.L885P
p.L885P
p.L885P

22.7

2.473E-5

Stessman2017 T

ADGRL2

AU3692301

chr1:
82634737-82634737

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL2

2-0022-004

chr1:
83334355-83334355

A

C

intergenic

De novo

-

Yuen2017 G

ADGRL2

AU3858302

chr1:
83427744-83427744

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL2

AU3761301

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

ADGRL2

1-1000-003

chr1:
82256055-82256068

AACACACACACACA

AACACACACACA

intronic

De novo

-

Yuen2017 G

ADGRL2

1-0285-003

chr1:
82918261-82918261

G

T

intergenic

De novo

-

Yuen2017 G

ADGRL2

1-0652-003

chr1:
83267229-83267229

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL2

SSC07524

chr1:
82434968-82434968

G

A

exonic

De novo

nonsynonymous SNV

NM_001297705
NM_001297706
NM_012302
NM_001297704

c.G2579A
c.G2579A
c.G2579A
c.G2579A

p.R860H
p.R860H
p.R860H
p.R860H

33.0

8.237E-5

Fu2022 E
Lim2017 E

ADGRL2

2-0244-003

chr1:
83161872-83161872

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL2

AU3721302

chr1:
82779190-82779190

C

A

intergenic

De novo

-

Yuen2017 G

ADGRL2

2-1105-003

chr1:
82988853-82988853

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRL2

Li2017:20250

chr1:
82408707-82408707

A

C

exonic

Unknown

nonsynonymous SNV

NM_001297705
NM_001297706
NM_012302
NM_001297704

c.A452C
c.A452C
c.A452C
c.A452C

p.E151A
p.E151A
p.E151A
p.E151A

18.43

6.637E-5

Li2017 T

ADGRL2

74-0688

chr1:
83154515-83154515

C

T

intergenic

De novo

-

Michaelson2012 G

ADGRL2

10C109058

chr1:
82447466-82447467

TA

T

intronic

De novo

-

8.314E-6

Satterstrom2020 E

ADGRL2

217-14403-5120

chr1:
82445619-82445619

G

A

exonic

Maternal

nonsynonymous SNV

NM_001297705
NM_001297706
NM_012302
NM_001297704

c.G3037A
c.G3037A
c.G3037A
c.G3037A

p.D1013N
p.D1013N
p.D1013N
p.D1013N

33.0

-

Stessman2017 T

ADGRL2

AU4485302

chr1:
82630758-82630758

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL2

1-0412-003

chr1:
82465947-82465947

C

G

intergenic

De novo

-

Yuen2017 G

ADGRL2

13496.p1

chr1:
82434968-82434968

G

A

exonic

De novo

nonsynonymous SNV

NM_001297705
NM_001297706
NM_012302
NM_001297704

c.G2579A
c.G2579A
c.G2579A
c.G2579A

p.R860H
p.R860H
p.R860H
p.R860H

33.0

8.237E-5

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

ADGRL2

A18

chr1:
82565055-82565055

T

A

intergenic

De novo

-

Wu2018 G

ADGRL2

AU2950301

chr1:
83392841-83392841

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL2

2-1297-003

chr1:
82748973-82748973

G

GGA

intergenic

De novo

-

Yuen2017 G

ADGRL2

2-1337-003

chr1:
82542762-82542762

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRL2

AU3343301

chr1:
82658115-82658115

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL2

AU3763305

chr1:
82299722-82299722

A

G

intronic

De novo

-

Yuen2017 G

ADGRL2

7-0143-003

chr1:
82822924-82822940

GCTGAGCCTGAGCCTGA

GCTGAGCCTGAGCCTGAGCCTGA

intergenic

De novo

-

Yuen2017 G

ADGRL2

1-0368-004

chr1:
82618671-82618671

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL2

2-0273-003

chr1:
83211056-83211056

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL2

AU2433303

chr1:
82669537-82669537

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL2

AU1404301

chr1:
82304204-82304205

TA

T

intronic

De novo

-

Yuen2017 G

ADGRL2

101443-100

chr1:
82266199-82266199

T

A

splicing

Inherited

splicing

-

Stessman2017 T

ADGRL2

AU3862305

chr1:
83162701-83162701

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL2

1-0255-003

chr1:
83036761-83036761

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRL2

2-1384-003

chr1:
82846410-82846410

G

T

intergenic

De novo

-

Yuen2017 G

ADGRL2

AU025704

chr1:
82596946-82596946

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL2

M20398

chr1:
82434986-82434986

G

A

exonic

Maternal

nonsynonymous SNV

NM_001297705
NM_001297706
NM_012302
NM_001297704

c.G2597A
c.G2597A
c.G2597A
c.G2597A

p.R866Q
p.R866Q
p.R866Q
p.R866Q

34.0

4.943E-5

Wang2016 T

ADGRL2

2-1066-004

chr1:
82656520-82656520

A

T

intergenic

De novo

-

Yuen2017 G

ADGRL2

1-0045-003

chr1:
83430291-83430297

TAGTCTC

T

intergenic

De novo

-

Yuen2017 G

ADGRL2

2-1066-004

chr1:
82311905-82311905

T

A

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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