Variant Results

or

Results for "ADGRL3"

Variant Events: 45

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

ADGRL3

1-0668-003

chr4:
62639130-62639130

A

G

intronic

De novo

-

Yuen2017 G

ADGRL3

7-0219-003

chr4:
62412982-62412982

G

T

intronic

De novo

-

Yuen2017 G

ADGRL3

A30

chr4:
62768302-62768302

T

A

intronic

De novo

-

Wu2018 G

ADGRL3

08C77921

chr4:
62897125-62897125

A

C

intronic

De novo

-

Satterstrom2020 E

ADGRL3

AU011903

chr4:
62581046-62581046

C

T

intronic

De novo

-

Yuen2017 G

ADGRL3

1-0868-003

chr4:
62873786-62873786

G

A

intronic

De novo

-

Yuen2017 G

ADGRL3

AU3885304

chr4:
62413875-62413875

G

A

intronic

De novo

-

Yuen2017 G

ADGRL3

1-0554-003

chr4:
62873759-62873759

G

A

intronic

De novo

-

Yuen2017 G

ADGRL3

1-0668-003

chr4:
62704545-62704545

A

G

intronic

De novo

-

Yuen2017 G

ADGRL3

2-0225-004

chr4:
62461943-62461943

T

G

intronic

De novo

-

Yuen2017 G

ADGRL3

A1

chr4:
62431566-62431566

A

G

intronic

De novo

-

Wu2018 G

ADGRL3

AU1725306

chr4:
62749689-62749689

C

A

intronic

De novo

-

Yuen2017 G

ADGRL3

A39

chr4:
62936291-62936291

T

C

exonic

De novo

nonsynonymous SNV

NM_015236

c.T4075C

p.F1359L

12.45

-

Jiao2019 E

ADGRL3

AU076705

chr4:
62662012-62662012

G

A

intronic

De novo

-

Yuen2017 G

ADGRL3

1-0048-003

chr4:
62766438-62766438

T

C

intronic

De novo

-

Yuen2017 G

ADGRL3

1-0539-003

chr4:
62690147-62690147

T

A

intronic

De novo

-

Yuen2017 G

ADGRL3

2-1507-003

chr4:
62558316-62558316

C

A

intronic

De novo

-

Yuen2017 G

ADGRL3

2-1254-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

ADGRL3

2-0057-004

chr4:
62470013-62470013

A

T

intronic

De novo

-

Yuen2017 G

ADGRL3

PN400195

chr4:
62910181-62910181

G

A

exonic

Unknown

nonsynonymous SNV

NM_015236

c.G3524A

p.R1175H

22.6

-

Leblond2019 E

ADGRL3

2-1730-003

chr4:
62546467-62546475

GAGTTAGTT

GAGTT

intronic

De novo

-

Yuen2017 G

ADGRL3

1-0990-003

chr4:
62730738-62730738

G

C

intronic

De novo

-

Yuen2017 G

ADGRL3

2-0309-004

chr4:
62461943-62461943

T

G

intronic

De novo

-

Yuen2017 G

ADGRL3

1-0559-003

chr4:
62505131-62505131

T

TATC

intronic

De novo

-

Yuen2017 G

ADGRL3

1-0745-003

chr4:
62918555-62918555

G

T

intronic

De novo

-

Yuen2017 G

ADGRL3

2-1297-004

chr4:
62381064-62381064

T

C

intronic

De novo

-

Yuen2017 G

ADGRL3

AU3725302

chr4:
62453441-62453448

GAGAAGAA

GAGAA

intronic

De novo

-

Yuen2017 G

ADGRL3

1-0458-003

chr4:
62627513-62627513

G

T

intronic

De novo

-

Yuen2017 G

ADGRL3

AU021204

chr4:
62750902-62750902

G

A

intronic

De novo

-

Yuen2017 G

ADGRL3

AU3888302

chr4:
62723043-62723043

G

GA

intronic

De novo

-

Yuen2017 G

ADGRL3

1-0067-005

chr4:
62856456-62856456

C

T

intronic

De novo

-

Yuen2017 G

ADGRL3

08C73487

chr4:
62897185-62897185

C

T

exonic

De novo

nonsynonymous SNV

NM_015236

c.C3244T

p.L1082F

20.5

-

Fu2022 E
Satterstrom2020 E

ADGRL3

2-1646-003

chr4:
62408522-62408522

A

G

intronic

De novo

-

Yuen2017 G

ADGRL3

1-0755-003

chr4:
62731233-62731233

G

A

intronic

De novo

-

Yuen2017 G

ADGRL3

2-1508-003

chr4:
62554114-62554114

G

C

intronic

De novo

-

Yuen2017 G

ADGRL3

AU2433302

chr4:
62822511-62822511

G

A

intronic

De novo

-

Yuen2017 G

ADGRL3

AU4006302

chr4:
62479450-62479450

A

G

intronic

De novo

-

Yuen2017 G

ADGRL3

1-0976-003

chr4:
62588949-62588949

A

G

intronic

De novo

-

Yuen2017 G

ADGRL3

AU2485305

chr4:
62559091-62559091

T

C

intronic

De novo

-

Yuen2017 G

ADGRL3

7-0119-003

chr4:
62500785-62500785

G

A

intronic

De novo

-

Yuen2017 G

ADGRL3

PN400194

chr4:
62910181-62910181

G

A

exonic

Unknown

nonsynonymous SNV

NM_015236

c.G3524A

p.R1175H

22.6

-

Leblond2019 E

ADGRL3

AU031403

chr4:
62620651-62620651

T

C

intronic

De novo

-

Yuen2017 G

ADGRL3

1-0559-004

chr4:
62505131-62505131

T

TATC

intronic

De novo

-

Yuen2017 G

ADGRL3

7-0024-003

chr4:
62561008-62561008

C

T

intronic

De novo

-

Yuen2017 G

ADGRL3

7-0095-004

chr4:
62673681-62673681

C

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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