Variant Results

or

Results for "AGBL1"

Variant Events: 92

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

AGBL1

AU030804

chr15:
86944298-86944298

C

T

intronic

De novo

-

Yuen2017 G

AGBL1

2-1399-003

chr15:
88051840-88051840

A

C

intergenic

De novo

-

Yuen2017 G

AGBL1

2-1280-003

chr15:
86735401-86735413

GCACACACACACA

GCACACACACA

intronic

De novo

-

Yuen2017 G

AGBL1

NDAR_INVGH325XTH_wes1

chr15:
86791126-86791126

A

T

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

AGBL1

1-0417-003

chr15:
87357268-87357268

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AGBL1

1-0203-003

chr15:
86928730-86928730

G

C

intronic

De novo

-

Yuen2017 G

AGBL1

AU4145303

chr15:
86784063-86784063

C

T

intronic

De novo

-

Yuen2017 G

AGBL1

1-0203-003

chr15:
86923672-86923672

G

C

intronic

De novo

-

Yuen2017 G

AGBL1

1-0203-003

chr15:
86922492-86922492

T

C

intronic

De novo

-

Yuen2017 G

AGBL1

1-0674-003

chr15:
87438854-87438854

C

T

intronic

De novo

-

Yuen2017 G

AGBL1

1-0699-003

chr15:
87047083-87047083

G

C

intronic

De novo

-

Yuen2017 G

AGBL1

13515.p1

chr15:
86753743-86753743

G

A

intronic

De novo

-

Turner2016 G

AGBL1

AU4394302

chr15:
88045655-88045655

A

G

intergenic

De novo

-

Yuen2017 G

AGBL1

1-0918-003

chr15:
87565790-87565790

T

C

intronic

De novo

-

Yuen2017 G

AGBL1

2-1086-004

chr15:
87676268-87676268

G

A

intergenic

De novo

-

Yuen2017 G

AGBL1

2-1182-003

chr15:
87084682-87084682

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AGBL1

AU2162302

chr15:
86795520-86795520

C

G

intronic

De novo

-

Yuen2017 G

AGBL1

14637.p1

chr15:
87710829-87710829

G

A

intergenic

De novo

-

Turner2016 G

AGBL1

AU3777302

chr15:
87083587-87083587

G

A

intronic

De novo

-

Yuen2017 G

AGBL1

5-0087-003

chr15:
86958441-86958441

T

C

intronic

De novo

-

Yuen2017 G

AGBL1

AU066104

chr15:
87324087-87324087

C

T

intronic

De novo

-

Yuen2017 G

AGBL1

2-1184-003

chr15:
87206324-87206324

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AGBL1

AU2140305

chr15:
87278972-87278972

T

A

intronic

De novo

-

Yuen2017 G

AGBL1

1-0224-004

chr15:
88052733-88052733

T

A

intergenic

De novo

-

Yuen2017 G

AGBL1

2-0202-004

chr15:
87561232-87561232

A

G

intronic

De novo

-

Yuen2017 G

AGBL1

AU031004

chr15:
88088129-88088129

C

G

intergenic

De novo

-

Yuen2017 G

AGBL1

AU054103

chr15:
86935365-86935365

T

C

intronic

De novo

-

Yuen2017 G

AGBL1

AU006804

chr15:
87667223-87667223

A

T

intergenic

De novo

-

Yuen2017 G

AGBL1

1-0567-004

chr15:
87985837-87985839

CAG

C

intergenic

De novo

-

Yuen2017 G

AGBL1

2-1242-003

chr15:
87293270-87293270

A

T

intronic

De novo

-

Yuen2017 G

AGBL1

2-0007-003

chr15:
87631571-87631571

C

T

intergenic

De novo

-

Yuen2017 G

AGBL1

1-0372-003

chr15:
86750732-86750732

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AGBL1

AU079204

chr15:
86726222-86726222

G

A

intronic

De novo

-

Yuen2017 G

AGBL1

AU079204

chr15:
87773293-87773293

C

T

intergenic

De novo

-

Yuen2017 G

AGBL1

1-0579-003

chr15:
87190881-87190881

G

A

intronic

De novo

-

Yuen2017 G

AGBL1

AU072004

chr15:
87801668-87801668

C

T

intergenic

De novo

-

Yuen2017 G

AGBL1

Li2017:19690

chr15:
86940602-86940602

C

A

exonic

Unknown

nonsynonymous SNV

NM_152336

c.C2242A

p.R748S

24.7

8.764E-6

Li2017 T

AGBL1

1-0402-004

chr15:
87251463-87251464

AG

A

intronic

De novo

-

Yuen2017 G

AGBL1

2-1213-003

chr15:
87592721-87592721

C

A

intergenic

De novo

-

Yuen2017 G

AGBL1

AU3057301

chr15:
87343421-87343421

G

C

intronic

De novo

-

Yuen2017 G

AGBL1

1-0668-003

chr15:
87004769-87004769

T

A

intronic

De novo

-

Yuen2017 G

AGBL1

AU3124304

chr15:
87394209-87394209

C

T

intronic

De novo

-

Yuen2017 G

AGBL1

5-0055-003

chr15:
86944880-86944880

G

T

intronic

De novo

-

Yuen2017 G

AGBL1

7-0135-003

chr15:
87370134-87370134

C

T

intronic

De novo

-

Yuen2017 G

AGBL1

1-0045-003

chr15:
86811066-86811066

C

G

intronic

De novo

-

Yuen2017 G

AGBL1

Li2017:18

chr15:
86791030-86791031

AG

A

exonic

Unknown

frameshift deletion

NM_152336

c.518delG

p.R173fs

-

Li2017 T

AGBL1

1-0448-003

chr15:
87098737-87098737

G

A

intronic

De novo

-

Yuen2017 G

AGBL1

2-0215-003

chr15:
86805007-86805007

C

T

intronic

De novo

-

Yuen2017 G

AGBL1

5-0033-004

chr15:
88067606-88067606

T

C

intergenic

De novo

-

Yuen2017 G

AGBL1

Li2017:24

chr15:
86807692-86807692

C

CA

exonic

Unknown

frameshift insertion

NM_152336

c.1153dupA

p.S384fs

-

1.0E-4

Li2017 T

AGBL1

AU005214

chr15:
87161164-87161164

A

T

intronic

De novo

-

Yuen2017 G

AGBL1

1-0323-004

chr15:
87946691-87946691

C

T

intergenic

De novo

-

Yuen2017 G

AGBL1

2-1296-003

chr15:
87525291-87525291

A

G

intronic

De novo

-

Yuen2017 G

AGBL1

2-1296-003

chr15:
87340845-87340845

A

T

intronic

De novo

-

Yuen2017 G

AGBL1

AU3790301

chr15:
87392585-87392585

C

T

intronic

De novo

-

Yuen2017 G

AGBL1

2-1373-003

chr15:
86897347-86897347

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AGBL1

2-1417-003

chr15:
86839308-86839308

C

T

intronic

De novo

-

Yuen2017 G

AGBL1

AU4273304

chr15:
87322090-87322090

G

A

intronic

De novo

-

Yuen2017 G

AGBL1

1-0160-004

chr15:
87498234-87498234

A

G

intronic

De novo

-

Yuen2017 G

AGBL1

AU027506

chr15:
87878190-87878190

C

A

intergenic

De novo

-

Yuen2017 G

AGBL1

AU4032307

chr15:
87065723-87065723

A

G

intronic

De novo

-

Yuen2017 G

AGBL1

1-0965-003

chr15:
87657015-87657015

A

G

intergenic

De novo

-

Yuen2017 G

AGBL1

AU026604

chr15:
87881104-87881104

G

T

intergenic

De novo

-

Yuen2017 G

AGBL1

AU4327303

chr15:
86821546-86821546

A

G

intronic

De novo

-

Yuen2017 G

AGBL1

1-0075-003

chr15:
86998774-86998774

T

C

intronic

De novo

-

Yuen2017 G

AGBL1

5-0131-003

chr15:
88051842-88051842

C

A

intergenic

De novo

-

Yuen2017 G

AGBL1

3-0431-000

chr15:
87259830-87259830

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AGBL1

2-0289-004

chr15:
86971135-86971135

C

T

intronic

De novo

-

Yuen2017 G

AGBL1

2-1094-005

chr15:
88106759-88106759

A

C

intergenic

De novo

-

Yuen2017 G

AGBL1

2-1094-005

chr15:
86878098-86878098

C

T

intronic

De novo

-

Yuen2017 G

AGBL1

1-0408-003

chr15:
87332013-87332013

C

T

intronic

De novo

-

Yuen2017 G

AGBL1

AU038204

chr15:
88053275-88053275

C

T

intergenic

De novo

-

Yuen2017 G

AGBL1

AU2495302

chr15:
87249877-87249877

C

T

intronic

De novo

-

Yuen2017 G

AGBL1

1-0388-003

chr15:
86835704-86835704

C

A

intronic

De novo

-

Yuen2017 G

AGBL1

1-0585-003

chr15:
87123863-87123863

T

C

intronic

De novo

-

Yuen2017 G

AGBL1

AU4410302

chr15:
87948259-87948259

C

G

intergenic

De novo

-

Yuen2017 G

AGBL1

AU3808304

chr15:
87108233-87108233

C

G

intronic

De novo

-

Yuen2017 G

AGBL1

2-0007-004

chr15:
87592449-87592449

T

C

intergenic

De novo

-

Yuen2017 G

AGBL1

2-1180-003

chr15:
86744794-86744794

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AGBL1

1-0558-003

chr15:
86918033-86918033

C

A

intronic

De novo

-

Yuen2017 G

AGBL1

AU1668302

chr15:
87309554-87309554

C

T

intronic

De novo

-

Yuen2017 G

AGBL1

AU1668302

chr15:
87793558-87793558

G

A

intergenic

De novo

-

Yuen2017 G

AGBL1

1-0556-003

chr15:
87830105-87830114

GTCATTCATT

GTCATT

intergenic

De novo

-

Yuen2017 G

AGBL1

AU007503

chr15:
88062116-88062116

G

A

intergenic

De novo

-

Yuen2017 G

AGBL1

2-1427-003

chr15:
87511667-87511667

T

A

intronic

De novo

-

Yuen2017 G

AGBL1

74-0075

chr15:
88062116-88062116

G

A

intergenic

De novo

-

Michaelson2012 G

AGBL1

Li2017:18907

chr15:
86791030-86791031

AG

A

exonic

Unknown

frameshift deletion

NM_152336

c.518delG

p.R173fs

-

Li2017 T

AGBL1

A27

chr15:
86807700-86807700

A

AA

exonic

De novo

frameshift insertion

NM_152336

c.1160dupA

p.N387fs

-

Wu2018 G

AGBL1

AU4168306

chr15:
87438177-87438177

A

G

intronic

De novo

-

Yuen2017 G

AGBL1

A15

chr15:
86791031-86791032

GG

G

exonic

De novo

frameshift deletion

NM_152336

c.519delG

p.R173fs

-

Wu2018 G

AGBL1

AU4463303

chr15:
87843300-87843300

C

T

intergenic

De novo

-

Yuen2017 G

AGBL1

Li2017:18911

chr15:
86807692-86807692

C

CA

exonic

Unknown

frameshift insertion

NM_152336

c.1153dupA

p.S384fs

-

1.0E-4

Li2017 T

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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