Variant Results

or

Results for "GBE1"

Variant Events: 119

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

GBE1

2-0057-003

chr3:
83006174-83006174

T

C

intergenic

De novo

-

Yuen2017 G

GBE1

AU3124304

chr3:
82497661-82497661

T

C

intergenic

De novo

-

Yuen2017 G

GBE1

AU4150301

chr3:
82560818-82560819

CA

CAA

intergenic

De novo

-

Yuen2017 G

GBE1

AU0780301

chr3:
83279518-83279518

T

C

intergenic

De novo

-

Yuen2017 G

GBE1

5-0050-004

chr3:
81590823-81590823

T

A

intronic

De novo

-

Yuen2017 G

GBE1

AU024607

chr3:
83347487-83347487

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

13515.p1

chr3:
82236828-82236828

A

T

intergenic

De novo

-

Turner2016 G

GBE1

11194.p1

chr3:
82322544-82322544

C

T

intergenic

De novo

-

Turner2016 G

GBE1

AU4452302

chr3:
82675793-82675793

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

AU4473301

chr3:
82910859-82910859

G

C

intergenic

De novo

-

Yuen2017 G

GBE1

2-1220-003

chr3:
83778200-83778200

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GBE1

AU1687302

chr3:
81785732-81785732

G

A

intronic

De novo

-

Yuen2017 G

GBE1

2-1250-003

chr3:
83326649-83326649

T

C

intergenic

De novo

-

Yuen2017 G

GBE1

AU3760302

chr3:
81879594-81879594

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

5-0073-003

chr3:
83254461-83254461

T

C

intergenic

De novo

-

Yuen2017 G

GBE1

7-0254-003

chr3:
83312604-83312604

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

AU-24601

chr3:
81691938-81691938

T

C

exonic

nonsynonymous SNV

NM_000158

c.A986G

p.Y329C

20.4

5.0E-4

Doan2019 E

GBE1

7-0253-003

chr3:
83546044-83546044

C

T

intergenic

De novo

-

Yuen2017 G

GBE1

AU3263301

chr3:
82696845-82696845

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

AU065304

chr3:
81576149-81576149

C

T

intronic

De novo

-

Yuen2017 G

GBE1

1-0534-006

chr3:
83542134-83542134

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

60-2027

chr3:
82018417-82018417

T

C

intergenic

De novo

-

Michaelson2012 G

GBE1

1-0547-003

chr3:
83012634-83012634

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

2-1436-003

chr3:
83230313-83230320

ACGCGTTT

A

intergenic

De novo

-

Yuen2017 G

GBE1

2-1475-003

chr3:
81545362-81545362

G

A

intronic

De novo

-

Yuen2017 G

GBE1

7-0082-003

chr3:
82933635-82933635

A

ACCTTCTTCTAC

intergenic

De novo

-

Yuen2017 G

GBE1

AU3517301

chr3:
81810096-81810096

G

A

intronic

De novo

-

Yuen2017 G

GBE1

2-0145-003

chr3:
82436268-82436268

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

7-0082-003

chr3:
82732885-82732885

T

TAAG

intergenic

De novo

-

Yuen2017 G

GBE1

7-0219-003

chr3:
82959592-82959592

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

1-0226-005

chr3:
83690824-83690824

C

T

intergenic

De novo

-

Yuen2017 G

GBE1

1-0226-005

chr3:
82354870-82354870

T

C

intergenic

De novo

-

Yuen2017 G

GBE1

AU4234303

chr3:
81683795-81683797

CAG

C

intronic

De novo

-

Yuen2017 G

GBE1

2-1617-003

chr3:
82132253-82132253

T

A

intergenic

De novo

-

Yuen2017 G

GBE1

AU2129303

chr3:
83275491-83275491

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

2-1235-004

chr3:
83033941-83033941

T

C

intergenic

De novo

-

Yuen2017 G

GBE1

5-0077-004

chr3:
82397258-82397258

T

C

intergenic

De novo

-

Yuen2017 G

GBE1

2-1196-003

chr3:
83432235-83432235

C

T

intergenic

De novo

-

Yuen2017 G

GBE1

AU0636303

chr3:
83736287-83736287

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

1-0972-003

chr3:
81599745-81599745

A

G

intronic

De novo

-

Yuen2017 G

GBE1

3-0065-000

chr3:
83686329-83686329

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

1-0458-005

chr3:
82168608-82168608

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

AU021204

chr3:
82658589-82658589

T

C

intergenic

De novo

-

Yuen2017 G

GBE1

AU3725302

chr3:
83082109-83082109

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

2-1114-003

chr3:
83441899-83441899

G

C

intergenic

De novo

-

Yuen2017 G

GBE1

2-1486-003

chr3:
83383902-83383902

T

A

intergenic

De novo

-

Yuen2017 G

GBE1

1-0972-003

chr3:
83562001-83562001

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

AU4197302

chr3:
82048796-82048796

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

AU073003

chr3:
83575546-83575546

C

T

intergenic

De novo

-

Yuen2017 G

GBE1

SP0057252

chr3:
81640287-81640287

T

G

exonic

De novo

nonsynonymous SNV

NM_000158

c.A1137C

p.E379D

13.41

-

Fu2022 E

GBE1

1-0359-003

chr3:
82276429-82276429

G

C

intergenic

De novo

-

Yuen2017 G

GBE1

2-1178-003

chr3:
81557445-81557445

T

C

intronic

De novo

-

Yuen2017 G

GBE1

AU3725302

chr3:
82931165-82931180

TAAACAAACAAACAAA

TAAACAAACAAA

intergenic

De novo

-

Yuen2017 G

GBE1

5-0018-003

chr3:
82948636-82948636

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

AU4235303

chr3:
82723966-82723966

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

3-0080-000

chr3:
82909812-82909812

T

G

intergenic

De novo

-

Yuen2016 G

GBE1

AU1687303

chr3:
81785732-81785732

G

A

intronic

De novo

-

Yuen2017 G

GBE1

AU3764302

chr3:
83797867-83797867

C

T

intergenic

De novo

-

Yuen2017 G

GBE1

AU1988302

chr3:
82900202-82900204

CAT

C

intergenic

De novo

-

Yuen2017 G

GBE1

AU047904

chr3:
83330923-83330923

C

T

intergenic

De novo

-

Yuen2017 G

GBE1

iHART1821

chr3:
81586077-81586077

C

T

exonic

Paternal

stopgain

NM_000158

c.G1788A

p.W596X

37.0

-

Ruzzo2019 G

GBE1

iHART1824

chr3:
81586077-81586077

C

T

exonic

Paternal

stopgain

NM_000158

c.G1788A

p.W596X

37.0

-

Ruzzo2019 G

GBE1

2-1138-003

chr3:
82506348-82506348

T

C

intergenic

De novo

-

Yuen2017 G

GBE1

iHART1896

chr3:
81699022-81699022

C

T

exonic

Paternal

stopgain

NM_000158

c.G480A

p.W160X

38.0

8.355E-6

Ruzzo2019 G

GBE1

iHART3242

chr3:
81627124-81627124

G

A

exonic

Paternal

stopgain

NM_000158

c.C1570T

p.R524X

41.0

1.685E-5

Ruzzo2019 G

GBE1

1-0559-004

chr3:
83896721-83896721

T

G

intergenic

De novo

-

Yuen2017 G

GBE1

2-0264-004

chr3:
83225540-83225540

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

AU3849303

chr3:
81978741-81978741

C

T

intergenic

De novo

-

Yuen2017 G

GBE1

AU047904

chr3:
83597224-83597224

T

C

intergenic

De novo

-

Yuen2017 G

GBE1

1-0373-003

chr3:
82911243-82911243

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

12335.p1

chr3:
83197187-83197189

GTC

ATT

intergenic

Maternal

-

Wilfert2021 G

GBE1

1-0572-003

chr3:
83490975-83490977

CAT

C

intergenic

De novo

-

Yuen2017 G

GBE1

AU3839302

chr3:
82842895-82842895

C

T

intergenic

De novo

-

Yuen2017 G

GBE1

2-1719-003

chr3:
83196498-83196498

T

A

intergenic

De novo

-

Yuen2017 G

GBE1

2-1272-003

chr3:
83761393-83761393

G

C

intergenic

De novo

-

Yuen2016 G

GBE1

AU1668302

chr3:
82247913-82247913

G

C

intergenic

De novo

-

Yuen2017 G

GBE1

2-1362-004

chr3:
82078988-82078988

A

T

intergenic

De novo

-

Yuen2017 G

GBE1

AU059903

chr3:
82462191-82462210

GTCTCTCTCTCTCTCTCTCT

GTCTCTCTCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

GBE1

AU073005

chr3:
82058005-82058005

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

AU073005

chr3:
83575546-83575546

C

T

intergenic

De novo

-

Yuen2017 G

GBE1

1-0112-004

chr3:
82847929-82847929

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

AU009903

chr3:
81995918-81995918

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

AU3692302

chr3:
83890190-83890190

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

1-0067-004

chr3:
82628322-82628322

C

CTACTT

intergenic

De novo

-

Yuen2017 G

GBE1

1-0024-003

chr3:
81575607-81575607

G

A

intronic

De novo

-

Yuen2017 G

GBE1

2-1440-003

chr3:
83755689-83755689

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GBE1

1-0032-003

chr3:
82779014-82779014

A

T

intergenic

De novo

-

Yuen2017 G

GBE1

1-0912-003

chr3:
82010460-82010460

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

AU4067301

chr3:
82814823-82814823

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

2-1230-003

chr3:
81993694-81993694

G

T

intergenic

De novo

-

Yuen2017 G

GBE1

1-0197-004

chr3:
81723173-81723173

A

G

intronic

De novo

-

Yuen2017 G

GBE1

1-0295-003

chr3:
83194140-83194140

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

1-0051-005

chr3:
81555426-81555426

G

GAT

intronic

De novo

-

Yuen2017 G

GBE1

AU3852301

chr3:
83176428-83176428

T

C

intergenic

De novo

-

Yuen2017 G

GBE1

1-0455-003

chr3:
81999499-81999499

C

T

intergenic

De novo

-

Yuen2017 G

GBE1

AU3861301

chr3:
82176634-82176634

G

C

intergenic

De novo

-

Yuen2017 G

GBE1

AU2072302

chr3:
83457292-83457292

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

AU3729301

chr3:
83130587-83130587

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

AU2793302

chr3:
81770918-81770918

T

C

intronic

De novo

-

Yuen2017 G

GBE1

2-1295-003

chr3:
81982069-81982070

CT

C

intergenic

De novo

-

Yuen2017 G

GBE1

5-0109-003

chr3:
82010917-82010917

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

2-1195-003

chr3:
83698773-83698773

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GBE1

7-0255-003

chr3:
82045750-82045750

T

C

intergenic

De novo

-

Yuen2017 G

GBE1

2-1511-003

chr3:
82261507-82261507

A

T

intergenic

De novo

-

Yuen2017 G

GBE1

2-0149-003

chr3:
82970563-82970563

C

T

intergenic

De novo

-

Yuen2017 G

GBE1

AU3937301

chr3:
82077759-82077759

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

AU3937301

chr3:
83204056-83204059

AAGA

AA

intergenic

De novo

-

Yuen2017 G

GBE1

AU4423303

chr3:
82101197-82101197

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

1-0971-003

chr3:
81827467-81827467

C

A

intergenic

De novo

-

Yuen2017 G

GBE1

2-0197-004

chr3:
82677645-82677645

A

G

intergenic

De novo

-

Yuen2017 G

GBE1

1-0579-003

chr3:
82893579-82893579

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

1-0925-003

chr3:
83304702-83304702

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

1-0965-003

chr3:
81846613-81846613

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

1-0533-003

chr3:
83317848-83317850

TCA

T

intergenic

De novo

-

Yuen2017 G

GBE1

DEASD_0277_001

chr3:
81539663-81539663

C

T

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

GBE1

1-0300-004

chr3:
83690564-83690564

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

2-0033-003

chr3:
82014614-82014614

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GBE1

AU072004

chr3:
82564942-82564942

G

A

intergenic

De novo

-

Yuen2017 G

GBE1

2-0033-003

chr3:
82014605-82014605

A

T

intergenic

De novo

-

Yuen2016 G
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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