Variant Results

or

Results for "SH3BP4"

Variant Events: 48

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

SH3BP4

2-1485-004

chr2:
236077927-236077927

A

ACTT

intergenic

De novo

-

Yuen2017 G

SH3BP4

2-1456-003

chr2:
235895039-235895039

G

A

intronic

De novo

-

Yuen2017 G

SH3BP4

AU4013303

chr2:
236378356-236378356

T

C

intergenic

De novo

-

Yuen2017 G

SH3BP4

2-1359-004

chr2:
236251777-236251777

G

A

intergenic

De novo

-

Yuen2017 G

SH3BP4

1-0010-005

chr2:
236077948-236077948

A

ATGGTAATGG

intergenic

De novo

-

Yuen2017 G

SH3BP4

14590.p1

chr2:
235887588-235887588

G

A

intronic

De novo

-

Turner2016 G

SH3BP4

14482.p1

chr2:
235953437-235953437

G

A

intronic

De novo

-

Turner2016 G

SH3BP4

2-1261-003

chr2:
236059614-236059614

G

A

intergenic

De novo

-

Yuen2017 G

SH3BP4

13539.p1

chr2:
236096782-236096782

G

A

intergenic

De novo

-

Turner2016 G

SH3BP4

1-0248-003

chr2:
235995900-235995900

C

T

intergenic

De novo

-

Yuen2017 G

SH3BP4

AU4485302

chr2:
235921134-235921134

A

T

intronic

De novo

-

Yuen2017 G

SH3BP4

JASD_Fam0208

chr2:
235951884-235951884

T

TTG

exonic

De novo

frameshift insertion

NM_014521

c.2471_2472insTG

p.L824fs

-

Takata2018 E

SH3BP4

12498.p1

chr2:
235970607-235970607

A

G

intergenic

De novo

-

Turner2016 G

SH3BP4

12568.p1

chr2:
236003050-236003050

A

G

intergenic

De novo

-

Turner2016 G

SH3BP4

1-0458-005

chr2:
236331349-236331349

A

T

intergenic

De novo

-

Yuen2017 G

SH3BP4

7-0095-003

chr2:
236077927-236077927

A

ACTT

intergenic

De novo

-

Yuen2017 G

SH3BP4

2-0244-003

chr2:
236107935-236107935

C

A

intergenic

De novo

-

Yuen2017 G

SH3BP4

7-0148-003

chr2:
235956993-235956993

G

C

intronic

De novo

-

Yuen2017 G

SH3BP4

1-0566-003

chr2:
236257548-236257548

T

C

intergenic

De novo

-

Yuen2017 G

SH3BP4

2-0304-004

chr2:
235990935-235990935

A

G

intergenic

De novo

-

Yuen2017 G

SH3BP4

2-0013-003

chr2:
236077927-236077927

A

ACTT

intergenic

De novo

-

Yuen2017 G

SH3BP4

1-0261-003

chr2:
236077945-236077945

A

ATGG

intergenic

De novo

-

Yuen2017 G

SH3BP4

2-1093-009

chr2:
235956569-235956569

T

G

intronic

De novo

-

Yuen2017 G

SH3BP4

1-0388-003

chr2:
236004884-236004884

A

G

intergenic

De novo

-

Yuen2017 G

SH3BP4

2-0289-003

chr2:
236048051-236048051

T

G

intergenic

De novo

-

Yuen2017 G

SH3BP4

AU2137304

chr2:
236400360-236400360

A

G

intergenic

De novo

-

Yuen2017 G

SH3BP4

1-0244-003

chr2:
236199283-236199283

A

T

intergenic

De novo

-

Yuen2017 G

SH3BP4

1-0169-004

chr2:
236077927-236077927

A

ACTT

intergenic

De novo

-

Yuen2017 G

SH3BP4

2-1329-003

chr2:
236288717-236288717

G

A

intergenic

De novo

-

Yuen2017 G

SH3BP4

2-1089-004

chr2:
236077885-236077885

A

G

intergenic

De novo

-

Yuen2017 G

SH3BP4

2-1461-003

chr2:
236174434-236174434

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SH3BP4

3-0436-000

chr2:
236352766-236352766

G

A

intergenic

De novo

-

Yuen2017 G

SH3BP4

AU3368303

chr2:
235982614-235982614

G

A

intergenic

De novo

-

Yuen2017 G

SH3BP4

AU1698301

chr2:
235995027-235995027

G

T

intergenic

De novo

-

Yuen2017 G

SH3BP4

1-0180-004

chr2:
236077927-236077927

A

ACTT

intergenic

De novo

-

Yuen2017 G

SH3BP4

2-1644-004

chr2:
236050865-236050865

A

G

intergenic

De novo

-

Yuen2017 G

SH3BP4

2-1644-004

chr2:
235916706-235916706

G

A

intronic

De novo

-

Yuen2017 G

SH3BP4

2-0019-004

chr2:
236230675-236230675

T

C

intergenic

De novo

-

Yuen2017 G

SH3BP4

2-1428-003

chr2:
236074921-236074921

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SH3BP4

2-1629-003

chr2:
236345036-236345036

C

T

intergenic

De novo

-

Yuen2017 G

SH3BP4

AU072505

chr2:
236312764-236312764

C

A

intergenic

De novo

-

Yuen2017 G

SH3BP4

1-0289-003

chr2:
236002069-236002069

C

T

intergenic

De novo

-

Yuen2017 G

SH3BP4

2-0289-004

chr2:
235929960-235929960

A

C

intronic

De novo

-

Yuen2017 G

SH3BP4

60-2036

chr2:
235950057-235950057

A

G

exonic

Inherited

nonsynonymous SNV

NM_014521

c.A644G

p.N215S

8.088

4.124E-5

Patowary2019 E

SH3BP4

A17

chr2:
236123425-236123425

G

A

intergenic

De novo

-

Wu2018 G

SH3BP4

1-0303-004

chr2:
236396985-236396985

A

C

intergenic

De novo

-

Yuen2017 G

SH3BP4

1-0329-004

chr2:
236253382-236253386

TACAC

T

intergenic

De novo

-

Yuen2017 G

SH3BP4

AU2292302

chr2:
236135337-236135337

C

T

intergenic

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
	More