Variant Results

or

Results for "EPHB1"

Variant Events: 58

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

EPHB1

1-0597-003

chr3:
135473464-135473464

G

A

intergenic

De novo

-

Yuen2017 G

EPHB1

SSC05396

chr3:
134968233-134968233

G

A

exonic

De novo

nonsynonymous SNV

NM_004441

c.G2746A

p.V916M

32.0

2.49E-5

Fu2022 E
Lim2017 E

EPHB1

1-0627-007

chr3:
135205276-135205276

A

T

intergenic

De novo

-

Yuen2017 G

EPHB1

2-0022-003

chr3:
135012495-135012495

G

C

intergenic

De novo

-

Yuen2017 G

EPHB1

AU047704

chr3:
134814608-134814608

C

G

intronic

De novo

-

Yuen2017 G

EPHB1

13918.p1

chr3:
134825572-134825573

GT

G

intronic

De novo

-

Wilfert2021 G

EPHB1

2-1437-003

chr3:
135623387-135623389

CAG

C

intergenic

De novo

-

Yuen2017 G

EPHB1

5-0014-003

chr3:
134556177-134556177

A

G

intronic

De novo

-

Yuen2017 G

EPHB1

AU1668302

chr3:
135415713-135415713

C

A

intergenic

De novo

-

Yuen2017 G

EPHB1

TRE_2562

chr3:
134696834-134696834

A

G

intronic

De novo

-

Fu2022 E

EPHB1

13748_p1

chr3:
134959990-134959990

G

A

exonic

De novo

nonsynonymous SNV

NM_004441

c.G2347A

p.G783R

24.6

-

Fu2022 E

EPHB1

5-0147-003

chr3:
135008082-135008082

T

G

intergenic

De novo

-

Yuen2017 G

EPHB1

DEASD_0060_001

chr3:
134968172-134968172

C

T

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

EPHB1

AU051503

chr3:
134872034-134872034

C

T

intronic

De novo

-

Yuen2017 G

EPHB1

AU3610302

chr3:
135313821-135313847

CAAAAACAAAAAAAAAAACAAAAAAAA

CAAAAA

intergenic

De novo

-

Yuen2017 G

EPHB1

13748.p1

chr3:
134959990-134959990

G

A

exonic

De novo

nonsynonymous SNV

NM_004441

c.G2347A

p.G783R

24.6

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

EPHB1

12673.p1

chr3:
134968233-134968233

G

A

exonic

De novo

nonsynonymous SNV

NM_004441

c.G2746A

p.V916M

32.0

2.49E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

EPHB1

1-0112-004

chr3:
135029348-135029348

A

G

intergenic

De novo

-

Yuen2017 G

EPHB1

2-1089-003

chr3:
135328708-135328708

C

T

intergenic

De novo

-

Yuen2017 G

EPHB1

1-0381-003

chr3:
134936318-134936336

GGAGAGAGAGAGAGAGAGA

GGAGAGAGAGAGAGAGA

intronic

De novo

-

Yuen2017 G

EPHB1

2-1131-003

chr3:
134656434-134656434

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

EPHB1

2-1644-004

chr3:
135339171-135339171

T

C

intergenic

De novo

-

Yuen2017 G

EPHB1

AU2089301

chr3:
135671404-135671404

G

T

intergenic

De novo

-

Yuen2017 G

EPHB1

2-0145-003

chr3:
135515608-135515608

G

A

intergenic

De novo

-

Yuen2017 G

EPHB1

AU4284301

chr3:
135478509-135478509

C

T

intergenic

De novo

-

Yuen2017 G

EPHB1

14642.p1

chr3:
135337226-135337226

C

A

intergenic

De novo

-

Turner2016 G

EPHB1

AU3807302

chr3:
134806582-134806582

G

A

intronic

De novo

-

Yuen2017 G

EPHB1

11456.p1

chr3:
135630269-135630269

A

G

intergenic

De novo

-

Turner2016 G

EPHB1

2-0109-003

chr3:
135532710-135532710

C

T

intergenic

De novo

-

Yuen2017 G

EPHB1

A9

chr3:
134758996-134758996

C

G

intronic

De novo

-

Wu2018 G

EPHB1

AU024004

chr3:
135142104-135142104

G

C

intergenic

De novo

-

Yuen2017 G

EPHB1

1-0259-005

chr3:
134687725-134687726

TA

T

intronic

De novo

-

Yuen2017 G

EPHB1

AU050910

chr3:
134965755-134965755

T

G

intronic

De novo

-

Yuen2017 G

EPHB1

AU4060306

chr3:
134677848-134677848

C

G

intronic

De novo

-

Yuen2017 G

EPHB1

2-0318-003

chr3:
135638868-135638868

A

G

intergenic

De novo

-

Yuen2017 G

EPHB1

2-1442-003

chr3:
135545969-135545969

A

C

intergenic

De novo

-

Yuen2017 G

EPHB1

7-0130-003

chr3:
135425572-135425572

C

T

intergenic

De novo

-

Yuen2017 G

EPHB1

1-0246-005

chr3:
135206147-135206147

T

G

intergenic

De novo

-

Yuen2017 G

EPHB1

AU3888302

chr3:
135037131-135037131

A

C

intergenic

De novo

-

Yuen2017 G

EPHB1

AU3725302

chr3:
135221758-135221758

T

C

intergenic

De novo

-

Yuen2017 G

EPHB1

2-0214-003

chr3:
135551799-135551799

C

T

intergenic

De novo

-

Yuen2017 G

EPHB1

1-1004-003

chr3:
135584747-135584747

A

T

intergenic

De novo

-

Yuen2017 G

EPHB1

2-1373-003

chr3:
135519758-135519758

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

EPHB1

1701001

chr3:
134885799-134885801

CAA

C

exonic

De novo

frameshift deletion

NM_004441

c.1711_1712del

p.K571fs

-

Fu2022 E
Satterstrom2020 E

EPHB1

7-0024-005

chr3:
135300360-135300360

T

G

intergenic

De novo

-

Yuen2017 G

EPHB1

2-0272-003

chr3:
134535242-134535242

T

C

intronic

De novo

-

Yuen2017 G

EPHB1

1-0629-003

chr3:
135059074-135059074

A

G

intergenic

De novo

-

Yuen2017 G

EPHB1

SP0070692

chr3:
134670242-134670242

C

A

exonic

De novo

nonsynonymous SNV

NM_004441

c.C153A

p.N51K

12.89

1.0E-4

Fu2022 E

EPHB1

SP0089699

chr3:
134851754-134851754

C

T

exonic

De novo

nonsynonymous SNV

NM_004441

c.C1160T

p.T387M

19.48

1.66E-5

Fu2022 E

EPHB1

SP0032477

chr3:
134967153-134967153

T

C

intronic

De novo

-

Fu2022 E

EPHB1

AU054103

chr3:
135563385-135563385

A

T

intergenic

De novo

-

Yuen2017 G

EPHB1

1-0153-004

chr3:
135353992-135353992

C

T

intergenic

De novo

-

Yuen2017 G

EPHB1

1-0965-003

chr3:
135487549-135487549

T

C

intergenic

De novo

-

Yuen2017 G

EPHB1

2-0319-003

chr3:
134689343-134689343

T

C

intronic

De novo

-

Yuen2017 G

EPHB1

2-1105-003

chr3:
134923206-134923206

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

EPHB1

AU050403

chr3:
134700256-134700256

C

T

intronic

De novo

-

Yuen2017 G

EPHB1

7-0183-003

chr3:
135663378-135663378

C

T

intergenic

De novo

-

Yuen2017 G

EPHB1

2-0238-003

chr3:
134710223-134710223

G

T

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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