Variant Results

or

Results for "DOCK1"

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

DOCK1

PN400213

chr10:
129242460-129242460

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

0.01

Leblond2019 E

DOCK1

PN400518

chr10:
129242460-129242460

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

0.01

Leblond2019 E

DOCK1

1-0162-004

chr10:
129121943-129121943

C

T

intronic

De novo

-

Yuen2017 G

DOCK1

AU4250301

chr10:
129261083-129261083

C

T

intergenic

De novo

-

Yuen2017 G

DOCK1

1-0496-003

chr10:
129085131-129085131

T

G

intronic

De novo

-

Yuen2017 G

DOCK1

PN400194

chr10:
129242460-129242460

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

0.01

Leblond2019 E

DOCK1

2-1633-003

chr10:
129159648-129159650

GAT

GATAT

intronic

De novo

-

Yuen2017 G

DOCK1

2-1338-003

chr10:
129218453-129218453

G

A

intronic

De novo

-

Yuen2017 G

DOCK1

AU3911301

chr10:
129017121-129017121

G

C

intronic

De novo

-

Yuen2017 G

DOCK1

F2613-1

chr10:
129224199-129224199

C

T

exonic

De novo

nonsynonymous SNV

NM_001290223
NM_001380

c.C4838T
c.C4775T

p.P1613L
p.P1592L

23.6

8.28E-6

Montenegro2019 E

DOCK1

PN400128

chr10:
129242460-129242460

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

0.01

Leblond2019 E

DOCK1

PN400332

chr10:
129242460-129242460

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

0.01

Leblond2019 E

DOCK1

2-1402-003

chr10:
128971212-128971212

A

G

intronic

De novo

-

Yuen2017 G

DOCK1

2-1335-004

chr10:
129331408-129331408

G

A

intergenic

De novo

-

Yuen2017 G

DOCK1

7-0197-003

chr10:
129261430-129261434

GCCCC

GCCC

intergenic

De novo

-

Yuen2017 G

DOCK1

PN400321

chr10:
129242460-129242460

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

0.01

Leblond2019 E

DOCK1

2-1085-004

chr10:
128875912-128875912

A

G

intronic

De novo

-

Yuen2017 G

DOCK1

5-0061-003

chr10:
129258189-129258189

G

A

intergenic

De novo

-

Yuen2017 G

DOCK1

AU079104

chr10:
129067675-129067675

A

G

intronic

De novo

-

Yuen2017 G

DOCK1

13739.p1

chr10:
128776178-128776178

T

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

DOCK1

7-0249-004

chr10:
128998711-128998711

A

C

intronic

De novo

-

Yuen2017 G

DOCK1

14565.p1

chr10:
129242541-129242541

C

T

exonic

De novo

nonsynonymous SNV

NM_001290223
NM_001380

c.C5411T
c.C5348T

p.S1804L
p.S1783L

14.23

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

DOCK1

2-0503-004

chr10:
128983367-128983367

C

A

intronic

De novo

-

Yuen2017 G

DOCK1

5-0140-003

chr10:
128981648-128981648

G

A

intronic

De novo

-

Yuen2017 G

DOCK1

PN400517

chr10:
129242460-129242460

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

0.01

Leblond2019 E

DOCK1

1-0609-003

chr10:
129301221-129301221

C

T

intergenic

De novo

-

Yuen2017 G

DOCK1

G01_GEA472HI

chr10:
128829982-128829982

C

A

exonic

De novo

nonsynonymous SNV

NM_001290223
NM_001380

c.C1693A
c.C1630A

p.L565M
p.L544M

8.923

-

Fu2022 E

DOCK1

1-0010-003

chr10:
129241164-129241164

C

T

intronic

De novo

-

Yuen2017 G

DOCK1

AU4376301

chr10:
129342848-129342848

A

G

intergenic

De novo

-

Yuen2017 G

DOCK1

PN400114

chr10:
129242460-129242460

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

0.01

Leblond2019 E

DOCK1

AU075703

chr10:
129125170-129125170

G

C

intronic

De novo

-

Yuen2017 G

DOCK1

3-0482-000

chr10:
129272401-129272401

T

C

intergenic

De novo

-

Yuen2017 G

DOCK1

PN400385

chr10:
129242460-129242460

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

0.01

Leblond2019 E

DOCK1

1-0208-003

chr10:
129224826-129224826

C

T

intronic

De novo

-

Yuen2017 G

DOCK1

2-0012-003

chr10:
128607315-128607315

C

T

intronic

De novo

-

Yuen2017 G

DOCK1

2-1277-003

chr10:
128966235-128966235

T

C

intronic

De novo

-

Yuen2017 G

DOCK1

PN400292

chr10:
129242460-129242460

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

0.01

Leblond2019 E

DOCK1

SA1807008_31

chr10:
128824757-128824757

A

G

intronic

De novo

-

Fu2022 E

DOCK1

161_18au

chr10:
129142004-129142004

T

G

exonic

De novo

nonsynonymous SNV

NM_001290223
NM_001380

c.T3218G
c.T3155G

p.L1073R
p.L1052R

14.17

-

Fu2022 E

DOCK1

2-1292-003

chr10:
129136026-129136026

A

G

intronic

De novo

-

Yuen2017 G

DOCK1

5-0064-003

chr10:
128893812-128893814

GCT

G

intronic

De novo

-

Yuen2017 G

DOCK1

36894

chr10:
129242541-129242541

C

T

exonic

De novo

nonsynonymous SNV

NM_001290223
NM_001380

c.C5411T
c.C5348T

p.S1804L
p.S1783L

14.23

-

Fu2022 E

DOCK1

ASC_3L002

chr10:
129207338-129207338

G

A

exonic

De novo

nonsynonymous SNV

NM_001290223
NM_001380

c.G4160A
c.G4097A

p.R1387H
p.R1366H

32.0

-

Fu2022 E

DOCK1

DEASD_0019_001

chr10:
128830433-128830433

G

T

exonic

De novo

synonymous SNV

NM_001290223
NM_001380

c.G1761T
c.G1698T

p.T587T
p.T566T

-

Fu2022 E

DOCK1

AU3768302

chr10:
129294770-129294770

A

G

intergenic

De novo

-

Yuen2017 G

DOCK1

2-0145-004

chr10:
129165716-129165718

ACT

A

intronic

De novo

-

Yuen2017 G

DOCK1

2-0198-003

chr10:
129011530-129011530

A

G

intronic

De novo

-

Yuen2017 G

DOCK1

12087.p1

chr10:
129182985-129182985

A

C

intronic

Mosaic

-

Dou2017 E

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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