Variant Results

or

Results for "DOCK4"

Variant Events: 72

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

DOCK4

AU4079302

chr7:
111412599-111412599

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

4-0034-003

chr7:
111540468-111540468

C

T

exonic

De novo

nonsynonymous SNV

NM_014705

c.G1442A

p.R481Q

35.0

9.092E-6

Trost2022 G
Zhou2022 GE

DOCK4

AU1995302

chr7:
111566317-111566324

CAATGAAT

CAAT

intronic

De novo

-

Yuen2017 G

DOCK4

AU050403

chr7:
111403749-111403749

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

ASC_CA_59_A

chr7:
111423960-111423960

T

C

exonic

De novo

synonymous SNV

NM_014705

c.A3450G

p.S1150S

0.093

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DOCK4

A13

chr7:
111598767-111598767

T

G

intronic

De novo

-

Wu2018 G

DOCK4

1-0673-003

chr7:
111602399-111602399

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

PN400491

chr7:
111368481-111368481

G

A

exonic

Unknown

nonsynonymous SNV

NM_014705

c.C5750T

p.P1917L

35.0

0.0036

Leblond2019 E

DOCK4

SP0102019

chr7:
111381746-111381751

TTACAG

T

intronic

De novo

-

Fu2022 E
Trost2022 G

DOCK4

2-1290-003

chr7:
111438539-111438541

ATT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

SP0088794

chr7:
111368797-111368797

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

DOCK4

7-0143-003

chr7:
111728352-111728352

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

SP0034202

chr7:
111382258-111382258

G

A

intronic

De novo

-

Fu2022 E

DOCK4

SP0041659

chr7:
111381683-111381683

T

C

exonic

De novo

nonsynonymous SNV

NM_014705

c.A4805G

p.H1602R

13.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DOCK4

SP0069311

chr7:
111584878-111584878

T

C

exonic

De novo

nonsynonymous SNV

NM_014705

c.A832G

p.I278V

7.505

1.663E-5

Fu2022 E
Zhou2022 GE

DOCK4

1-0440-003

chr7:
111577785-111577785

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

11099.p1

chr7:
111398732-111398732

C

T

exonic

De novo

nonsynonymous SNV

NM_014705

c.G4250A

p.R1417H

17.1

4.186E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

DOCK4

AU008505

chr7:
111584262-111584262

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

AU4246304

chr7:
111376917-111376918

AT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

11030.p1

chr7:
111584840-111584840

A

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

DOCK4

1-0325-003

chr7:
111380304-111380304

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

2-1633-003

chr7:
111718239-111718240

TG

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

AU4032307

chr7:
111620463-111620463

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

1-0566-003

chr7:
111547481-111547481

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

AU3692302

chr7:
111660841-111660841

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

AU002903

chr7:
111568013-111568013

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

09C86232A

chr7:
111381201-111381201

T

C

exonic

De novo

synonymous SNV

NM_014705

c.A4962G

p.V1654V

-

Lim2017 E

DOCK4

AU1909304

chr7:
111367690-111367690

G

C

UTR3

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

MT_160

chr7:
111428810-111428810

C

T

intronic

Maternal

13.76

1.0E-4

Toma2013 E

DOCK4

AU2320301

chr7:
111414447-111414447

C

T

intronic

De novo

-

Trost2022 G

DOCK4

AU2579302

chr7:
111433471-111433471

C

T

intronic

De novo

-

Trost2022 G

DOCK4

MSSNG00256-005

chr7:
111387109-111387111

CAT

C

intronic

De novo

-

Trost2022 G

DOCK4

SP0198208

chr7:
111409568-111409568

G

A

intronic

De novo

-

1.661E-5

Trost2022 G

DOCK4

1-0203-004

chr7:
111384737-111384738

AA

TGC

intronic

De novo

-

Trost2022 G

DOCK4

1-0203-004

chr7:
111384742-111384758

CAATGAAGGTTAAAGTC

GACTTTAACCTTCATTG

intronic

De novo

-

Trost2022 G

DOCK4

3-0626-000A

chr7:
111366764-111366764

C

T

UTR3

De novo

-

Trost2022 G

DOCK4

AU4372309

chr7:
111435914-111435914

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

PN400489

chr7:
111584884-111584884

C

T

exonic

Unknown

nonsynonymous SNV

NM_014705

c.G826A

p.V276M

26.2

1.663E-5

Leblond2019 E

DOCK4

1-0395-003

chr7:
111370492-111370493

AC

A

intronic

De novo

-

Trost2022 G

DOCK4

MSSNG00221-003

chr7:
111549685-111549685

C

T

intronic

De novo

-

Trost2022 G

DOCK4

3-0504-000

chr7:
111554633-111554633

T

C

intronic

De novo

-

Trost2022 G

DOCK4

2-1760-003

chr7:
111519241-111519241

T

C

intronic

De novo

-

Trost2022 G

DOCK4

4-0088-003

chr7:
111541521-111541521

G

A

intronic

De novo

-

Trost2022 G

DOCK4

SP0086715

chr7:
111508034-111508034

A

C

intronic

De novo

-

Trost2022 G

DOCK4

5-5126-003

chr7:
111510816-111510816

A

G

intronic

De novo

-

Trost2022 G

DOCK4

AU2193301

chr7:
111476202-111476202

T

C

intronic

De novo

-

Trost2022 G

DOCK4

1-0262-004A

chr7:
111478956-111478956

T

C

intronic

De novo

-

Trost2022 G

DOCK4

3-0050-000

chr7:
111751081-111751081

G

A

intronic

De novo

-

Trost2022 G

DOCK4

MSSNG00340-003

chr7:
111776252-111776252

G

A

intronic

De novo

-

Trost2022 G

DOCK4

1-0206-004

chr7:
111430019-111430023

AGCTC

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

AU1725302

chr7:
111703098-111703098

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

REACH000209

chr7:
111632069-111632069

G

A

intronic

De novo

-

Trost2022 G

DOCK4

SJD_49.4

chr7:
111646147-111646147

A

C

intronic

De novo

-

Trost2022 G

DOCK4

5-5129-003

chr7:
111599938-111599938

T

C

intronic

De novo

-

Trost2022 G

DOCK4

REACH000293

chr7:
111618012-111618012

G

A

intronic

De novo

-

Trost2022 G

DOCK4

5-5177-003

chr7:
111573324-111573324

T

C

intronic

De novo

-

Trost2022 G

DOCK4

2-1548-003

chr7:
111574513-111574513

G

C

intronic

De novo

-

Trost2022 G

DOCK4

AU3761301

chr7:
111479604-111479604

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

PN400252

chr7:
111584884-111584884

C

T

exonic

Unknown

nonsynonymous SNV

NM_014705

c.G826A

p.V276M

26.2

1.663E-5

Leblond2019 E

DOCK4

2-1408-003

chr7:
111483826-111483826

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

1-0401-003

chr7:
111403742-111403742

C

CCTG

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK4

REACH000322

chr7:
111778729-111778729

G

A

intronic

De novo

-

Trost2022 G

DOCK4

618998486080-C

chr7:
111409653-111409653

T

C

exonic

De novo

nonsynonymous SNV

NM_014705

c.A3733G

p.M1245V

12.55

-

Fu2022 E

DOCK4

7-0461-003

chr7:
111824031-111824031

G

T

intronic

De novo

-

Trost2022 G

DOCK4

12574.p1

chr7:
111423975-111423975

C

A

exonic

Mosaic

synonymous SNV

NM_014705

c.G3435T

p.R1145R

4.722

-

Dou2017 E

DOCK4

11099_p1

chr7:
111398732-111398732

C

T

exonic

De novo

nonsynonymous SNV

NM_014705

c.G4250A

p.R1417H

17.1

4.186E-5

Fu2022 E

DOCK4

1-0395-004

chr7:
111370492-111370493

AC

A

intronic

De novo

-

Yuen2017 G

DOCK4

AU057503

chr7:
111494892-111494892

C

A

intronic

De novo

-

Yuen2017 G

DOCK4

1-0120-003

chr7:
111606112-111606112

G

C

intronic

De novo

-

Yuen2017 G

DOCK4

1-0531-003

chr7:
111839716-111839716

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DOCK4

PN400246

chr7:
111368481-111368481

G

A

exonic

Unknown

nonsynonymous SNV

NM_014705

c.C5750T

p.P1917L

35.0

0.0036

Leblond2019 E

DOCK4

5-0077-004

chr7:
111558501-111558501

G

A

intronic

De novo

-

Trost2022 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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