Variant Results

or

Results for "DOCK5"

Variant Events: 41

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

DOCK5

SP0018345

chr8:
25231048-25231048

A

G

intronic

De novo

-

Fu2022 E

DOCK5

SP0042217

chr8:
25042300-25042300

C

T

UTR5

De novo

-

Fu2022 E

DOCK5

2-1627-003

chr8:
25137376-25137376

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK5

MSSNG00422-004

chr8:
25052686-25052686

C

T

intronic

De novo

-

Trost2022 G

DOCK5

2-0012-003

chr8:
25216673-25216674

TC

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK5

4-0064-003

chr8:
25073598-25073600

AAC

A

intronic

De novo

-

Trost2022 G

DOCK5

SP0133149

chr8:
25240206-25240206

T

G

exonic

De novo

nonsynonymous SNV

NM_024940

c.T4043G

p.F1348C

19.22

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DOCK5

AU2437302

chr8:
25238038-25238038

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK5

MSSNG00348-003

chr8:
25151480-25151480

A

C

intronic

De novo

-

Trost2022 G

DOCK5

1-0380-003

chr8:
25108866-25108866

C

CACA

intronic

De novo

-

Yuen2017 G

DOCK5

1-0319-004

chr8:
25101196-25101196

A

G

exonic

De novo

nonsynonymous SNV

NM_024940

c.A50G

p.Y17C

20.5

-

Trost2022 G
Zhou2022 GE

DOCK5

MSSNG00388-003

chr8:
25157532-25157532

C

T

intronic

De novo

-

Trost2022 G

DOCK5

7-0048-003

chr8:
25121154-25121154

A

G

intronic

De novo

-

Trost2022 G

DOCK5

MSSNG00027-004

chr8:
25149274-25149274

C

T

intronic

De novo

-

Trost2022 G

DOCK5

SP0069614

chr8:
25132939-25132939

C

G

exonic

De novo

nonsynonymous SNV

NM_024940

c.C206G

p.A69G

18.24

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DOCK5

1-0006-004

chr8:
25093100-25093107

GTTTCTGC

G

intronic

De novo

-

Trost2022 G

DOCK5

SP0022224

chr8:
25250369-25250369

A

C

exonic

De novo

nonsynonymous SNV

NM_024940

c.A4498C

p.K1500Q

22.2

-

Fu2022 E

DOCK5

2-1097-003

chr8:
25117981-25117982

AG

TT

intronic

De novo

-

Trost2022 G

DOCK5

SP0014861

chr8:
25231121-25231129

TTTTTCCTG

T

intronic

De novo

-

3.275E-5

Fu2022 E

DOCK5

4-0064-003

chr8:
25073607-25073616

ACACAATGTC

A

intronic

De novo

-

Trost2022 G

DOCK5

SP0056796

chr8:
25229993-25229993

T

G

intronic

De novo

-

Fu2022 E

DOCK5

REACH000569

chr8:
25085395-25085395

G

C

intronic

De novo

-

Trost2022 G

DOCK5

3-0312-000

chr8:
25234478-25234478

G

T

intronic

De novo

-

Trost2022 G

DOCK5

MSSNG00106-003

chr8:
25251485-25251485

G

A

intronic

De novo

-

Trost2022 G

DOCK5

1-1086-003

chr8:
25194705-25194705

A

C

intronic

De novo

-

Trost2022 G

DOCK5

A2

chr8:
25046013-25046013

T

C

intronic

De novo

-

Wu2018 G

DOCK5

AU3124304

chr8:
25217947-25217947

T

G

intronic

De novo

-

Trost2022 G

DOCK5

MSSNG00357-004

chr8:
25184717-25184717

G

A

intronic

De novo

-

Trost2022 G

DOCK5

1-0590-003

chr8:
25097875-25097875

T

C

intronic

De novo

-

Yuen2017 G

DOCK5

216287

chr8:
25187582-25187582

G

T

intronic

De novo

-

Trost2022 G

DOCK5

L7H6W_01

chr8:
25169608-25169608

T

A

intronic

De novo

-

Trost2022 G

DOCK5

MSSNG00129-003

chr8:
25184439-25184439

A

G

intronic

De novo

-

Trost2022 G

DOCK5

161618

chr8:
25174584-25174584

G

T

exonic

De novo

nonsynonymous SNV

NM_024940

c.G1380T

p.K460N

17.65

-

Fu2022 E

DOCK5

12102.p1

chr8:
25199347-25199348

TG

T

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E

DOCK5

14613.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_024940

c.4707dupT

p.A1569fs

-

1.188E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

DOCK5

mAGRE5361

chr8:
25258517-25258519

CGG

C

exonic

Paternal

frameshift deletion

NM_024940

c.4862_4863del

p.R1621fs

-

Cirnigliaro2023 G

DOCK5

37435

chr8:
25257428-25257428

C

CT

exonic

De novo

frameshift insertion

NM_024940

c.4707dupT

p.A1569fs

-

1.188E-5

Trost2022 G

DOCK5

mAGRE5216

chr8:
25193890-25193890

G

A

splicing

Maternal

splicing

21.0

1.665E-5

Cirnigliaro2023 G

DOCK5

MSSNG00331-003

chr8:
25271349-25271349

C

T

downstream

De novo

-

Trost2022 G

DOCK5

mAGRE5784

chr8:
25166358-25166358

C

G

exonic

Paternal

stopgain

NM_024940

c.C1109G

p.S370X

36.0

8.245E-6

Cirnigliaro2023 G

DOCK5

DEASD_0016_001

chr8:
25258469-25258469

C

T

exonic

De novo

nonsynonymous SNV

NM_024940

c.C4813T

p.R1605C

24.0

1.648E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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