Variant Results

or

Results for "DLGAP1"

Variant Events: 86

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

DLGAP1

1-0121-003

chr18:
4331404-4331404

C

T

intronic

De novo

-

Yuen2017 G

DLGAP1

1-0065-005

chr18:
3618947-3618947

A

AC

intronic

De novo

-

Yuen2017 G

DLGAP1

1-0841-003

chr18:
4090227-4090227

A

G

intronic

De novo

-

Yuen2017 G

DLGAP1

7-0097-003

chr18:
5088438-5088438

G

A

intergenic

De novo

-

Yuen2017 G

DLGAP1

1-0203-003

chr18:
5027931-5027931

C

T

intergenic

De novo

-

Yuen2017 G

DLGAP1

2-1408-003

chr18:
4253399-4253399

A

G

intronic

De novo

-

Yuen2017 G

DLGAP1

AU054303

chr18:
4769635-4769635

C

T

intergenic

De novo

-

Yuen2017 G

DLGAP1

03C14737

chr18:
3879854-3879854

C

T

exonic

De novo

nonsynonymous SNV

NM_001242761
NM_004746

c.G215A
c.G215A

p.R72H
p.R72H

32.0

-

Stessman2017 T

DLGAP1

1-0324-003

chr18:
4359830-4359830

A

C

intronic

De novo

-

Yuen2017 G

DLGAP1

AU045010

chr18:
3912632-3912632

T

A

intronic

De novo

-

Yuen2017 G

DLGAP1

1-0303-004

chr18:
3839608-3839608

G

A

intronic

De novo

-

Yuen2017 G

DLGAP1

1-0560-003

chr18:
3583340-3583354

TTCTCTCTCTCTCTC

TTCTCTCTCTCTC

intronic

De novo

-

Yuen2017 G

DLGAP1

3-0246-000

chr18:
3677820-3677820

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DLGAP1

1-0569-003

chr18:
4251766-4251766

C

T

intronic

De novo

-

Yuen2017 G

DLGAP1

2J788

chr18:
3502489-3502489

A

G

splicing;exonic

De novo

nonsynonymous SNV

NM_001242765
NM_001242761

c.T1820C
c.T2726C

p.V607A
p.V909A

13.38

-

Fu2022 E
Satterstrom2020 E

DLGAP1

AU3716302

chr18:
4207054-4207054

A

G

intronic

De novo

-

Yuen2017 G

DLGAP1

11414.p1

chr18:
4171942-4171942

A

G

intronic

De novo

-

Wilfert2021 G

DLGAP1

2-1428-003

chr18:
4793331-4793344

GACACACACACACA

GACACACACACA

intergenic

De novo

-

Yuen2017 G

DLGAP1

A2

chr18:
4416624-4416624

T

A

intronic

De novo

-

Wu2018 G

DLGAP1

AU072504

chr18:
4063127-4063127

C

A

intronic

De novo

-

Yuen2017 G

DLGAP1

AU1635302

chr18:
4668222-4668222

G

A

intergenic

De novo

-

Yuen2017 G

DLGAP1

AU2793302

chr18:
3810214-3810214

T

C

intronic

De novo

-

Yuen2017 G

DLGAP1

AU3874302

chr18:
5091689-5091689

C

T

intergenic

De novo

-

Yuen2017 G

DLGAP1

5-0148-003

chr18:
3601079-3601079

G

T

intronic

De novo

-

Yuen2017 G

DLGAP1

2-1357-003

chr18:
3772125-3772125

T

TCTC

intronic

De novo

-

Yuen2017 G

DLGAP1

14022.p1

chr18:
4670218-4670218

C

G

intergenic

De novo

-

Werling2018 G

DLGAP1

03C16095

chr18:
3499254-3499254

G

C

exonic

Unknown

nonsynonymous SNV

NM_001003809
NM_001242762
NM_001242764
NM_001242763
NM_001242766
NM_001308390
NM_004746

c.C1957G
c.C1915G
c.C1981G
c.C2029G
c.C1987G
c.C2011G
c.C2863G

p.R653G
p.R639G
p.R661G
p.R677G
p.R663G
p.R671G
p.R955G

23.7

-

Stessman2017 T

DLGAP1

GX0365.p1

chr18:
3879776-3879776

C

T

exonic

Maternal

nonsynonymous SNV

NM_001242761
NM_004746

c.G293A
c.G293A

p.R98H
p.R98H

32.0

1.685E-5

Guo2018 T

DLGAP1

AU024607

chr18:
3842953-3842953

C

T

intronic

De novo

-

Yuen2017 G

DLGAP1

2-1120-003

chr18:
4335194-4335194

A

G

intronic

De novo

-

Yuen2017 G

DLGAP1

AU1698302

chr18:
4410544-4410544

T

C

intronic

De novo

-

Yuen2017 G

DLGAP1

AU3888302

chr18:
3611586-3611586

G

A

intronic

De novo

-

Yuen2017 G

DLGAP1

2-0102-004

chr18:
4069346-4069347

AT

A

intronic

De novo

-

Yuen2017 G

DLGAP1

2-0102-004

chr18:
4024765-4024765

G

GTCT

intronic

De novo

-

Yuen2017 G

DLGAP1

5-0077-003

chr18:
3671529-3671540

GTTTTCCTGCTT

G

intronic

De novo

-

Yuen2017 G

DLGAP1

AU035604

chr18:
3499254-3499254

G

C

exonic

Unknown

nonsynonymous SNV

NM_001003809
NM_001242762
NM_001242764
NM_001242763
NM_001242766
NM_001308390
NM_004746

c.C1957G
c.C1915G
c.C1981G
c.C2029G
c.C1987G
c.C2011G
c.C2863G

p.R653G
p.R639G
p.R661G
p.R677G
p.R663G
p.R671G
p.R955G

23.7

-

Stessman2017 T

DLGAP1

1-0092-004

chr18:
3787645-3787645

C

CT

intronic

De novo

-

Yuen2017 G

DLGAP1

1-0218-004

chr18:
3618665-3618665

G

GGGGT

intronic

De novo

-

Yuen2017 G

DLGAP1

7-0044-003

chr18:
3961168-3961170

CCT

CCTTCT

intronic

De novo

-

Yuen2017 G

DLGAP1

2-0116-005

chr18:
5132766-5132766

G

A

intergenic

De novo

3.241

-

Yuen2017 G

DLGAP1

3-0080-000

chr18:
4161513-4161513

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DLGAP1

AU3849303

chr18:
4026862-4026862

T

C

intronic

De novo

-

Yuen2017 G

DLGAP1

14015.p1

chr18:
3540760-3540760

C

T

intronic

De novo

-

Turner2016 G

DLGAP1

7-0143-003

chr18:
5084154-5084154

T

A

intergenic

De novo

-

Yuen2017 G

DLGAP1

M18342

chr18:
3729240-3729240

G

A

exonic

Unknown

nonsynonymous SNV

NM_001003809
NM_001242762
NM_001242763
NM_001242764
NM_001242765
NM_001242766
NM_001308390
NM_001242761
NM_004746

c.C580T
c.C622T
c.C622T
c.C604T
c.C580T
c.C580T
c.C604T
c.C1486T
c.C1486T

p.R194W
p.R208W
p.R208W
p.R202W
p.R194W
p.R194W
p.R202W
p.R496W
p.R496W

22.0

-

Stessman2017 T

DLGAP1

14496.p1

chr18:
3614330-3614330

C

T

intronic

De novo

-

Turner2016 G

DLGAP1

2-0320-003

chr18:
4593585-4593585

T

C

intergenic

De novo

-

Yuen2017 G

DLGAP1

13393.p1

chr18:
4498347-4498347

C

T

intergenic

De novo

-

Turner2016 G

DLGAP1

1-0138-004

chr18:
4636397-4636397

G

C

intergenic

De novo

-

Yuen2017 G

DLGAP1

2-1322-004

chr18:
3695175-3695175

A

C

intronic

De novo

-

Yuen2017 G

DLGAP1

1-0104-003

chr18:
3517720-3517720

C

G

intronic

De novo

-

Yuen2017 G

DLGAP1

Y7H4L

chr18:
3534477-3534477

G

A

exonic

Unknown

nonsynonymous SNV

NM_001003809
NM_001242762
NM_001242764
NM_001242765
NM_001242763
NM_001242766
NM_001308390
NM_001242761
NM_004746

c.C1288T
c.C1246T
c.C1312T
c.C1288T
c.C1360T
c.C1318T
c.C1342T
c.C2194T
c.C2194T

p.R430C
p.R416C
p.R438C
p.R430C
p.R454C
p.R440C
p.R448C
p.R732C
p.R732C

19.29

8.241E-6

Stessman2017 T

DLGAP1

SP0000238

chr18:
3879457-3879457

C

T

exonic

De novo

synonymous SNV

NM_001242761
NM_004746

c.G612A
c.G612A

p.S204S
p.S204S

-

8.394E-6

Feliciano2019 E
Fu2022 E

DLGAP1

7-0167-003

chr18:
3578836-3578836

T

C

intronic

De novo

-

Yuen2017 G

DLGAP1

M20647

chr18:
3879576-3879576

C

T

exonic

Unknown

nonsynonymous SNV

NM_001242761
NM_004746

c.G493A
c.G493A

p.G165R
p.G165R

23.9

-

Stessman2017 T

DLGAP1

M12526

chr18:
3879645-3879645

C

A

exonic

Unknown

nonsynonymous SNV

NM_001242761
NM_004746

c.G424T
c.G424T

p.V142L
p.V142L

31.0

-

Guo2018 T
Wang2016 T

DLGAP1

03C19911

chr18:
3874153-3874153

C

T

splicing

Inherited

splicing

15.7

-

Stessman2017 T

DLGAP1

AU4024303

chr18:
3738180-3738180

G

A

intronic

De novo

-

Yuen2017 G

DLGAP1

AU1078301

chr18:
3874153-3874153

C

T

splicing

Inherited

splicing

15.7

-

Stessman2017 T

DLGAP1

2-1306-004

chr18:
4088901-4088901

A

ATG

intronic

De novo

-

Yuen2017 G

DLGAP1

5-0030-003

chr18:
4945118-4945118

C

T

intergenic

De novo

-

Yuen2017 G

DLGAP1

2-1302-003

chr18:
5066903-5066903

G

A

intergenic

De novo

-

Yuen2017 G

DLGAP1

1-0936-003

chr18:
4914769-4914769

G

T

intergenic

De novo

-

Yuen2017 G

DLGAP1

AU027506

chr18:
4754095-4754095

A

C

intergenic

De novo

-

Yuen2017 G

DLGAP1

3506_17au

chr18:
3580244-3580245

AC

A

intronic

De novo

-

Fu2022 E

DLGAP1

SP0062479

chr18:
3656177-3656177

A

C

intronic

De novo

-

Fu2022 E

DLGAP1

SP0077930

chr18:
3534395-3534395

G

T

exonic

De novo

nonsynonymous SNV

NM_001003809
NM_001242762
NM_001242764
NM_001242765
NM_001242763
NM_001242766
NM_001308390
NM_001242761
NM_004746

c.C1370A
c.C1328A
c.C1394A
c.C1370A
c.C1442A
c.C1400A
c.C1424A
c.C2276A
c.C2276A

p.T457K
p.T443K
p.T465K
p.T457K
p.T481K
p.T467K
p.T475K
p.T759K
p.T759K

15.57

-

Fu2022 E

DLGAP1

AU059903

chr18:
4067370-4067395

GAGGAAGGAAGGAAGGAAGGAAGGAA

GAGGAAGGAAGGAAGGAAGGAA

intronic

De novo

-

Yuen2017 G

DLGAP1

2-0318-004

chr18:
3706411-3706411

C

T

intronic

De novo

-

Yuen2017 G

DLGAP1

7-0133-003

chr18:
3618665-3618665

G

GGGGT

intronic

De novo

-

Yuen2017 G

DLGAP1

2-1422-003

chr18:
4359943-4359943

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DLGAP1

SP0022342

chr18:
3874822-3874822

C

T

intronic

De novo

-

Fu2022 E

DLGAP1

1-0482-003

chr18:
4890977-4890977

G

C

intergenic

De novo

-

Yuen2017 G

DLGAP1

1-0862-003

chr18:
3636793-3636793

C

G

intronic

De novo

-

Yuen2017 G

DLGAP1

AU057404

chr18:
4873190-4873190

C

A

intergenic

De novo

-

Yuen2017 G

DLGAP1

AU3637301

chr18:
4343176-4343176

A

G

intronic

De novo

-

Yuen2017 G

DLGAP1

1-0162-004

chr18:
4296888-4296888

G

A

intronic

De novo

-

Yuen2017 G

DLGAP1

AU2137304

chr18:
3859395-3859395

T

C

intronic

De novo

-

Yuen2017 G

DLGAP1

AU058105

chr18:
4458780-4458780

T

C

intergenic

De novo

-

Yuen2017 G

DLGAP1

7-0077-003

chr18:
3660108-3660111

ATTT

ATTTT

intronic

De novo

-

Yuen2017 G

DLGAP1

7-0077-003

chr18:
4917829-4917829

C

T

intergenic

De novo

-

Yuen2017 G

DLGAP1

2-0299-005

chr18:
3618947-3618947

A

ACAAACAAGCAAAAAACAAACAAAC

intronic

De novo

-

Yuen2017 G

DLGAP1

2-1230-003

chr18:
4232203-4232203

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DLGAP1

AU3808304

chr18:
3497653-3497653

G

A

UTR3

De novo

-

Yuen2017 G

DLGAP1

1-0032-003

chr18:
3618943-3618943

A

ACAAAACAAACAAGC

intronic

De novo

-

Yuen2017 G

DLGAP1

211-5649-3

chr18:
4151179-4151179

C

A

splicing

Paternal

splicing

-

Stessman2017 T

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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