Variant Results

or

Results for "DLGAP2"

Variant Events: 124

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

DLGAP2

AU063005

chr8:
892535-892535

A

G

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

AUTPGX_1020

chr8:
1642851-1642851

C

T

intronic

De novo

-

Trost2022 G

DLGAP2

MSSNG00439-003

chr8:
1657045-1657045

G

A

downstream

De novo

-

Trost2022 G

DLGAP2

1-0006-004

chr8:
1613987-1613987

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

12568.p1

chr8:
1458953-1458953

A

C

intronic

De novo

-

Turner2016 G

DLGAP2

1-0708-003

chr8:
1615563-1615563

T

TGCA

intronic

De novo

-

Yuen2017 G

DLGAP2

12568.p1

chr8:
1473768-1473768

C

T

intronic

De novo

-

Turner2016 G

DLGAP2

12568.p1

chr8:
1477916-1477916

C

T

intronic

De novo

-

Turner2016 G

DLGAP2

2-0129-004

chr8:
745608-745608

G

GA

ncRNA_intronic

De novo

-

Yuen2017 G

DLGAP2

AU3371301

chr8:
1478555-1478555

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

AU3371301

chr8:
1484096-1484096

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

5-0138-003

chr8:
948111-948111

G

A

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

2-1239-003

chr8:
1030620-1030620

G

C

ncRNA_intronic

De novo

-

Yuen2016 G
Yuen2017 G

DLGAP2

2-1288-003

chr8:
853992-853992

C

A

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

A3

chr8:
769294-769294

T

C

ncRNA_intronic

De novo

-

Wu2018 G

DLGAP2

1-0683-003

chr8:
1619906-1619906

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

1-0683-003

chr8:
1581576-1581576

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

1-0683-003

chr8:
1620929-1620929

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

AU4122301

chr8:
800078-800078

A

C

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

1-0547-003

chr8:
1660884-1660884

G

A

intergenic

De novo

-

Yuen2017 G

DLGAP2

11520.p1

chr8:
1626547-1626547

G

C

exonic

De novo

nonsynonymous SNV

NM_001277161
NM_004745

c.G2174C
c.G2216C

p.R725T
p.R739T

19.73

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

DLGAP2

AU1940304

chr8:
771471-771471

T

G

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

1-0874-003

chr8:
689342-689342

A

G

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

2-0007-004

chr8:
713666-713666

G

A

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

Cukier2014:37117

chr8:
1624708-1624708

G

C

exonic

Unknown

nonsynonymous SNV

NM_001277161
NM_004745

c.G1930C
c.G1972C

p.A644P
p.A658P

11.65

-

Cukier2014 E

DLGAP2

SSC02099

chr8:
1626547-1626547

G

C

exonic

De novo

nonsynonymous SNV

NM_001277161
NM_004745

c.G2174C
c.G2216C

p.R725T
p.R739T

19.73

-

Fu2022 E
Lim2017 E
Trost2022 G

DLGAP2

2-0503-003

chr8:
780699-780699

T

C

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

1-0715-003

chr8:
1015943-1015943

C

T

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

NDAR_INVYC885VDZ_wes1

chr8:
1497496-1497496

A

G

exonic

De novo

nonsynonymous SNV

NM_001277161
NM_004745

c.A637G
c.A637G

p.M213V
p.M213V

0.015

-

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

DLGAP2

L7T2M_01

chr8:
692607-692607

C

T

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

2-0139-004

chr8:
701880-701880

A

G

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

MSSNG00333-003

chr8:
688116-688116

G

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

AU3912302

chr8:
1664666-1664666

A

T

intergenic

De novo

-

Yuen2017 G

DLGAP2

2-1743-003A

chr8:
752126-752126

G

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

MSSNG00383-003

chr8:
752126-752126

G

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

AU2777302

chr8:
748235-748235

C

T

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

1-1105-005

chr8:
752126-752126

G

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

1-0344-003

chr8:
1708231-1708231

A

G

intergenic

De novo

-

Yuen2017 G

DLGAP2

REACH000198

chr8:
719741-719741

C

T

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

1-0344-003

chr8:
1706606-1706606

G

C

intergenic

De novo

-

Yuen2017 G

DLGAP2

7-0405-003

chr8:
722512-722512

G

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

REACH000198

chr8:
704582-704582

C

T

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

AU3792302

chr8:
714381-714381

T

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

5-5177-003

chr8:
787890-787890

T

G

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

2-1800-003

chr8:
791241-791241

C

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

7-0486-003

chr8:
768370-768370

A

G

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

3-0419-000

chr8:
779590-779590

G

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

AU4235302

chr8:
752146-752146

G

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

1-1126-003

chr8:
757965-757965

C

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

1-1090-003

chr8:
752146-752146

G

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

AU015903

chr8:
752146-752146

G

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

SJD_71.3

chr8:
845617-845617

G

T

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

2-1811-003

chr8:
918804-918804

C

T

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

2-1627-003

chr8:
1703484-1703484

A

G

intergenic

De novo

-

Yuen2017 G

DLGAP2

1-0262-004A

chr8:
818471-818471

C

T

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

AU043804

chr8:
1475503-1475503

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

3-0201-000

chr8:
842166-842166

C

T

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

MSSNG00352-004

chr8:
803390-803390

G

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

1-0945-003

chr8:
804124-804124

T

C

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

7-0256-003

chr8:
1040643-1040643

G

A

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

MSSNG00352-004

chr8:
794764-794764

A

T

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

MSSNG00355-003

chr8:
799435-799435

G

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

1-0201-004

chr8:
1699038-1699038

C

T

intergenic

De novo

-

Yuen2017 G

DLGAP2

4-0090-003

chr8:
1016402-1016402

A

G

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

1-1058-003

chr8:
1021332-1021332

C

T

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

1-0564-003

chr8:
864322-864334

CCTCTCTCTCTCT

CCTCTCTCTCT

ncRNA_intronic

De novo

-

Yuen2017 G

DLGAP2

MSSNG00052-003

chr8:
978467-978467

G

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

MT_15.3

chr8:
993452-993452

T

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

1-0722-003

chr8:
950236-950236

G

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

7-0399-003

chr8:
955823-955823

A

G

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

7-0094-004

chr8:
927746-927746

G

A

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

4-0082-004

chr8:
946217-946217

C

T

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

AU2156303

chr8:
1700662-1700662

G

A

intergenic

De novo

-

Yuen2017 G

DLGAP2

5-5129-003

chr8:
1087943-1087943

G

A

downstream

De novo

-

Trost2022 G

DLGAP2

7-0357-004

chr8:
1082086-1082086

C

G

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

2-1743-003A

chr8:
1084005-1084005

A

C

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

7-0288-004

chr8:
1059047-1059047

T

C

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

1-1119-003

chr8:
1078275-1078275

C

T

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

AU4376301

chr8:
1042970-1042970

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

DLGAP2

2-0214-003

chr8:
1029320-1029320

A

C

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

MSSNG00005-004

chr8:
1055622-1055622

T

G

ncRNA_intronic

De novo

-

Trost2022 G

DLGAP2

1-0289-004

chr8:
1074009-1074009

T

C

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

AU4392302

chr8:
932485-932485

C

G

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

A16

chr8:
1645523-1645523

G

A

intronic

De novo

-

Wu2018 G

DLGAP2

2-1327-004

chr8:
1060454-1060454

G

GGGTCTGTGACGTGTGCATGTGCTTA

ncRNA_intronic

De novo

-

Yuen2017 G

DLGAP2

2-1306-004

chr8:
1008146-1008146

A

ATTGACTAGC

ncRNA_intronic

De novo

-

Yuen2017 G

DLGAP2

2-1278-003

chr8:
1088157-1088157

G

A

downstream

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DLGAP2

1-1005-004

chr8:
1639706-1639706

G

A

exonic

De novo

nonsynonymous SNV

NM_001277161
NM_004745

c.G2428A
c.G2470A

p.G810S
p.G824S

17.6

-

Trost2022 G
Zhou2022 GE

DLGAP2

AU2592303

chr8:
1645372-1645372

G

A

exonic

De novo

synonymous SNV

NM_001277161
NM_004745

c.G2574A
c.G2616A

p.L858L
p.L872L

8.291

-

Fu2022 E

DLGAP2

REACH000650

chr8:
1513948-1513948

G

T

exonic

De novo

nonsynonymous SNV

NM_001277161
NM_004745

c.G1090T
c.G1090T

p.D364Y
p.D364Y

22.6

-

Trost2022 G
Zhou2022 GE

DLGAP2

1-0203-004

chr8:
1586587-1586587

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

2-0503-004

chr8:
780699-780699

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

DLGAP2

1-0490-003

chr8:
958811-958811

A

G

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

2-1132-003

chr8:
952927-952927

C

T

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

2-1085-004

chr8:
1037467-1037467

C

T

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

2-1163-003

chr8:
793417-793417

C

G

ncRNA_intronic

De novo

-

Yuen2017 G

DLGAP2

1-0555-003

chr8:
730595-730595

C

T

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

SP0125260

chr8:
1496738-1496738

T

G

intronic

De novo

-

Fu2022 E

DLGAP2

SP0012384

chr8:
1513948-1513948

G

T

exonic

De novo

nonsynonymous SNV

NM_001277161
NM_004745

c.G1090T
c.G1090T

p.D364Y
p.D364Y

22.6

-

Fu2022 E
Zhou2022 GE

DLGAP2

SP0037521

chr8:
1449466-1449466

T

C

upstream

De novo

-

Fu2022 E

DLGAP2

SP0074008

chr8:
1616801-1616801

C

T

exonic

De novo

nonsynonymous SNV

NM_001277161
NM_004745

c.C1877T
c.C1877T

p.A626V
p.A626V

13.54

5.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

DLGAP2

MSSNG00060-003

chr8:
1483699-1483699

A

G

intronic

De novo

-

Trost2022 G

DLGAP2

1-0345-003

chr8:
1008146-1008146

A

ATTGACTAGC

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

1-0202-003

chr8:
1486779-1486779

C

T

intronic

De novo

-

Trost2022 G

DLGAP2

2-1375-003

chr8:
1076981-1076981

C

T

ncRNA_intronic

De novo

-

Yuen2016 G
Yuen2017 G

DLGAP2

MSSNG00339-004

chr8:
1477500-1477500

A

G

intronic

De novo

-

Trost2022 G

DLGAP2

1005

chr8:
1483034-1483034

G

A

intronic

De novo

-

Trost2022 G

DLGAP2

MSSNG00008-003

chr8:
1453221-1453221

G

A

intronic

De novo

-

Trost2022 G

DLGAP2

4-0073-003

chr8:
1456069-1456069

A

G

intronic

De novo

-

Trost2022 G

DLGAP2

3-0650-000

chr8:
1571629-1571629

G

A

intronic

De novo

-

Trost2022 G

DLGAP2

5-0077-003

chr8:
712012-712012

C

T

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

1-0202-003

chr8:
1506664-1506666

CAT

C

intronic

De novo

-

Trost2022 G

DLGAP2

1-0677-003

chr8:
906304-906304

T

C

ncRNA_intronic

De novo

-

Trost2022 G
Yuen2017 G

DLGAP2

MSSNG00423-003

chr8:
1509870-1509870

A

G

intronic

De novo

-

Trost2022 G

DLGAP2

5-5159-003

chr8:
1492736-1492736

G

T

intronic

De novo

-

Trost2022 G

DLGAP2

MSSNG00390-003

chr8:
1493386-1493386

T

A

intronic

De novo

-

Trost2022 G

DLGAP2

1-0389-004

chr8:
1630743-1630744

TG

CA

intronic

De novo

-

Trost2022 G

DLGAP2

REACH000171

chr8:
1638916-1638916

T

A

intronic

De novo

-

Trost2022 G

DLGAP2

2-0725-003

chr8:
1606493-1606493

C

A

intronic

De novo

-

Trost2022 G

DLGAP2

REACH000757

chr8:
1608975-1608975

A

C

intronic

De novo

-

Trost2022 G

DLGAP2

REACH000757

chr8:
1596649-1596649

C

T

intronic

De novo

-

Trost2022 G

DLGAP2

REACH000757

chr8:
1604304-1604304

A

G

intronic

De novo

-

Trost2022 G

DLGAP2

SJD_79.3

chr8:
1576010-1576010

C

T

intronic

De novo

-

Trost2022 G

DLGAP2

REACH000757

chr8:
1579007-1579007

C

T

intronic

De novo

-

Trost2022 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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