Variant Results

or

Results for "DLG2"

Variant Events: 143

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

DLG2

1-0446-003

chr11:
85221625-85221626

TC

T

intronic

De novo

-

Yuen2017 G

DLG2

2-0022-004

chr11:
83617736-83617736

C

A

intronic

De novo

-

Yuen2017 G

DLG2

2-1215-003

chr11:
84735482-84735482

A

G

intronic

De novo

-

Yuen2017 G

DLG2

EGAN00001101342

chr11:
83770307-83770307

C

T

intronic

De novo

-

Satterstrom2020 E

DLG2

M13455

chr11:
84245741-84245741

C

T

exonic

Paternal

nonsynonymous SNV

NM_001300983
NM_001364
NM_001142699

c.G76A
c.G76A
c.G391A

p.D26N
p.D26N
p.D131N

36.0

-

Guo2018 T
Wang2016 T

DLG2

AU2756306

chr11:
84252908-84252908

A

G

intronic

De novo

-

Yuen2017 G

DLG2

5-0109-003

chr11:
85111530-85111530

T

C

intronic

De novo

-

Yuen2017 G

DLG2

AU4056302

chr11:
85238880-85238880

C

G

intronic

De novo

-

Yuen2017 G

DLG2

2-1279-003

chr11:
85014011-85014011

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DLG2

2-0197-004

chr11:
85010489-85010489

C

CA

intronic

De novo

-

Yuen2017 G

DLG2

AU4306302

chr11:
84039759-84039759

C

T

intronic

De novo

-

Yuen2017 G

DLG2

1-0139-003

chr11:
84900308-84900308

G

A

intronic

De novo

-

Yuen2017 G

DLG2

AU4093302

chr11:
85217969-85217969

G

A

intronic

De novo

-

Yuen2017 G

DLG2

2-1734-003

chr11:
85170304-85170304

G

A

intronic

De novo

-

Yuen2017 G

DLG2

1-0196-005

chr11:
84837158-84837158

C

T

intronic

De novo

-

Yuen2017 G

DLG2

1-0196-005

chr11:
84835146-84835146

A

C

intronic

De novo

-

Yuen2017 G

DLG2

2-1384-003

chr11:
84273764-84273764

C

A

intronic

De novo

-

Yuen2017 G

DLG2

2-1164-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

DLG2

AU3853302

chr11:
84122213-84122213

A

G

intronic

De novo

-

Yuen2017 G

DLG2

2-0323-004

chr11:
85158052-85158052

G

A

intronic

De novo

-

Yuen2017 G

DLG2

1-0640-003

chr11:
83337580-83337580

G

A

intronic

De novo

-

Yuen2017 G

DLG2

1-0751-003

chr11:
84154192-84154192

T

C

intronic

De novo

-

Yuen2017 G

DLG2

2-1485-004

chr11:
85109182-85109182

A

T

intronic

De novo

-

Yuen2017 G

DLG2

2-1526-003

chr11:
83795886-83795886

A

G

intronic

De novo

-

Yuen2017 G

DLG2

2-1715-004

chr11:
83778111-83778111

T

G

intronic

De novo

-

Yuen2017 G

DLG2

AU2019302

chr11:
83325526-83325526

C

A

intronic

De novo

-

Yuen2017 G

DLG2

7-0100-004

chr11:
83181652-83181652

C

G

intronic

De novo

-

Yuen2017 G

DLG2

7-0100-004

chr11:
83188537-83188537

G

C

intronic

De novo

-

Yuen2017 G

DLG2

7-0100-004

chr11:
83204859-83204859

G

A

intronic

De novo

-

Yuen2017 G

DLG2

AU3782302

chr11:
85122418-85122418

C

G

intronic

De novo

-

Yuen2017 G

DLG2

2-1364-003

chr11:
84937152-84937152

T

A

intronic

De novo

-

Yuen2017 G

DLG2

2-1112-003

chr11:
83256787-83256787

G

A

intronic

De novo

-

Yuen2017 G

DLG2

AU3605303

chr11:
85090292-85090292

C

G

intronic

De novo

-

Yuen2017 G

DLG2

M26816

chr11:
84996409-84996410

TC

T

splicing

Maternal

splicing

-

Guo2018 T
Wang2016 T

DLG2

GX0350.p1

chr11:
85337630-85337630

C

A

splicing

Paternal

splicing

-

Guo2018 T

DLG2

AU4154303

chr11:
83812638-83812638

C

A

intronic

De novo

-

Yuen2017 G

DLG2

AU080203

chr11:
83195273-83195275

TGT

T

intronic

Maternal

-

Stessman2017 T

DLG2

2-1168-003

chr11:
84947490-84947490

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DLG2

M20570

chr11:
83344294-83344294

C

T

exonic

Unknown

nonsynonymous SNV

NM_001142702
NM_001142700
NM_001206769
NM_001300983
NM_001364
NM_001142699

c.G31A
c.G1276A
c.G1702A
c.G1585A
c.G1585A
c.G1900A

p.G11R
p.G426R
p.G568R
p.G529R
p.G529R
p.G634R

26.8

-

Stessman2017 T

DLG2

1-0160-004

chr11:
84179153-84179153

T

C

intronic

De novo

-

Yuen2017 G

DLG2

2-1255-003

chr11:
84830747-84830747

T

C

intronic

De novo

-

Yuen2017 G

DLG2

2-1567-004

chr11:
83632642-83632642

C

T

intronic

De novo

-

Yuen2017 G

DLG2

1-0125-003

chr11:
83614668-83614668

G

A

intronic

De novo

-

Yuen2017 G

DLG2

1-0200-004

chr11:
83398672-83398672

G

A

intronic

De novo

-

Yuen2017 G

DLG2

AU1909304

chr11:
84613875-84613875

C

T

intronic

De novo

-

Yuen2017 G

DLG2

2-1129-003

chr11:
84044029-84044029

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DLG2

5-0073-003

chr11:
84932589-84932589

T

C

intronic

De novo

-

Yuen2017 G

DLG2

5-0131-003

chr11:
85324902-85324902

G

A

intronic

De novo

-

Yuen2017 G

DLG2

1-0214-003

chr11:
83664589-83664589

G

A

intronic

De novo

-

Yuen2017 G

DLG2

AU1909304

chr11:
84613842-84613842

C

A

intronic

De novo

-

Yuen2017 G

DLG2

2-1429-003

chr11:
83240831-83240831

A

G

intronic

De novo

-

Yuen2017 G

DLG2

2-0019-004

chr11:
85258144-85258144

G

A

intronic

De novo

-

Yuen2017 G

DLG2

AU2292301

chr11:
85183624-85183624

G

C

intronic

De novo

-

Yuen2017 G

DLG2

12498.p1

chr11:
83641706-83641706

C

T

intronic

De novo

-

Turner2016 G

DLG2

2-1381-003

chr11:
84176800-84176800

C

T

intronic

De novo

-

Yuen2017 G

DLG2

1-0777-003

chr11:
85311117-85311117

T

C

intronic

De novo

-

Yuen2017 G

DLG2

13964.p1

chr11:
85072527-85072527

A

G

intronic

De novo

-

Turner2016 G

DLG2

2-0319-004

chr11:
84879650-84879650

G

A

intronic

De novo

-

Yuen2017 G

DLG2

14015.p1

chr11:
83879010-83879010

A

G

intronic

De novo

-

Turner2016 G

DLG2

12498.p1

chr11:
84276318-84276318

A

G

intronic

De novo

-

Turner2016 G

DLG2

2-1116-003

chr11:
84439301-84439301

C

T

intronic

De novo

-

Yuen2016 G

DLG2

2-1350-004

chr11:
85109182-85109182

A

T

intronic

De novo

-

Yuen2017 G

DLG2

7-0219-003

chr11:
83924637-83924637

T

C

intronic

De novo

-

Yuen2017 G

DLG2

1-0874-003

chr11:
84941531-84941531

G

A

intronic

De novo

-

Yuen2017 G

DLG2

AU076705

chr11:
84536579-84536579

T

C

intronic

De novo

-

Yuen2017 G

DLG2

2-0143-004

chr11:
85114995-85114995

G

T

intronic

De novo

-

Yuen2017 G

DLG2

AU012803

chr11:
84364239-84364239

C

A

intronic

De novo

-

Yuen2017 G

DLG2

2-1329-003

chr11:
85281756-85281756

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DLG2

NDAR_INVZY951KXU_wes1

chr11:
83497765-83497765

G

C

exonic

De novo

nonsynonymous SNV

NM_001142700
NM_001206769
NM_001300983
NM_001364
NM_001142699

c.C1169G
c.C1595G
c.C1478G
c.C1478G
c.C1793G

p.T390R
p.T532R
p.T493R
p.T493R
p.T598R

20.3

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

DLG2

1-0744-003

chr11:
84363445-84363445

G

A

intronic

De novo

-

Yuen2017 G

DLG2

2-1329-003

chr11:
85280906-85280906

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DLG2

AU009805

chr11:
83269850-83269850

G

T

intronic

De novo

-

Yuen2017 G

DLG2

AU4145303

chr11:
83447775-83447789

TAAGAAGAAGAAGAA

TAAGAAGAAGAA

intronic

De novo

-

Yuen2017 G

DLG2

2-1362-003

chr11:
83370757-83370757

C

T

intronic

De novo

-

Yuen2017 G

DLG2

1-0259-005

chr11:
83585188-83585188

G

C

intronic

De novo

-

Yuen2017 G

DLG2

2-0126-004

chr11:
84866394-84866394

T

G

intronic

De novo

-

Yuen2017 G

DLG2

2-1730-003

chr11:
83299469-83299469

C

G

intronic

De novo

-

Yuen2017 G

DLG2

2-0318-003

chr11:
83499201-83499201

T

C

intronic

De novo

-

Yuen2017 G

DLG2

212-21026-1

chr11:
84027990-84027991

AC

G

exonic

Inherited

frameshift substitution

NM_001206769

c.198_199C

N/A

-

Stessman2017 T

DLG2

08C74959

chr11:
83362858-83362858

G

A

intronic

De novo

-

Satterstrom2020 E

DLG2

AU3636302

chr11:
85176824-85176824

C

A

intronic

De novo

-

Yuen2017 G

DLG2

2-1264-003

chr11:
85035956-85035956

T

C

intronic

De novo

-

Yuen2017 G

DLG2

1-0534-003

chr11:
84489628-84489628

G

A

intronic

De novo

-

Yuen2017 G

DLG2

5-0148-003

chr11:
84021062-84021062

G

A

intronic

De novo

-

Yuen2017 G

DLG2

A2

chr11:
84882964-84882964

A

G

intronic

De novo

-

Wu2018 G

DLG2

AU2075302

chr11:
83939378-83939378

G

C

intronic

De novo

-

Yuen2017 G

DLG2

AU2292302

chr11:
85183624-85183624

G

C

intronic

De novo

-

Yuen2017 G

DLG2

M30940

chr11:
83173084-83173084

C

T

exonic

Maternal

nonsynonymous SNV

NM_001142702
NM_001142700
NM_001206769
NM_001300983
NM_001364
NM_001142699

c.G859A
c.G2104A
c.G2584A
c.G2413A
c.G2467A
c.G2782A

p.A287T
p.A702T
p.A862T
p.A805T
p.A823T
p.A928T

34.0

8.288E-6

Guo2018 T

DLG2

1-0353-003

chr11:
84768497-84768497

T

C

intronic

De novo

-

Yuen2017 G

DLG2

1-0184-003

chr11:
85214979-85215000

AAGGAGGAGGAGGAGGAGGAGG

AAGGAGGAGGAGGAGGAGG

intronic

De novo

-

Yuen2017 G

DLG2

G6U8S

chr11:
83252891-83252891

C

T

exonic

Inherited

nonsynonymous SNV

NM_001142702
NM_001142700
NM_001206769
NM_001300983
NM_001364
NM_001142699

c.G82A
c.G1327A
c.G1753A
c.G1636A
c.G1636A
c.G1951A

p.D28N
p.D443N
p.D585N
p.D546N
p.D546N
p.D651N

35.0

1.713E-5

Stessman2017 T

DLG2

M30856

chr11:
83182725-83182725

C

T

exonic

Maternal

nonsynonymous SNV

NM_001142702
NM_001142700
NM_001206769
NM_001300983
NM_001364
NM_001142699

c.G467A
c.G1712A
c.G2192A
c.G2021A
c.G2075A
c.G2390A

p.R156Q
p.R571Q
p.R731Q
p.R674Q
p.R692Q
p.R797Q

34.0

4.183E-5

Guo2018 T

DLG2

AU2156303

chr11:
84612535-84612535

C

A

intronic

De novo

-

Yuen2017 G

DLG2

2-0102-004

chr11:
84761521-84761521

G

A

intronic

De novo

-

Yuen2017 G

DLG2

2-1359-003

chr11:
83545343-83545343

A

G

intronic

De novo

-

Yuen2017 G

DLG2

AU3634301

chr11:
84245862-84245862

T

A

intronic

De novo

-

Yuen2017 G

DLG2

AU2000304

chr11:
84363440-84363440

G

T

intronic

De novo

-

Yuen2017 G

DLG2

AU038703

chr11:
84028234-84028234

A

G

UTR5

De novo

-

Yuen2017 G

DLG2

HN0054.p1

chr11:
83770385-83770385

C

T

exonic

Unknown

nonsynonymous SNV

NM_001142700
NM_001206769
NM_001300983
NM_001364
NM_001142699

c.G424A
c.G694A
c.G577A
c.G577A
c.G892A

p.E142K
p.E232K
p.E193K
p.E193K
p.E298K

33.0

1.658E-5

Guo2018 T

DLG2

1-0564-003

chr11:
83542504-83542504

G

A

intronic

De novo

-

Yuen2017 G

DLG2

AU2525302

chr11:
83441440-83441440

T

C

intronic

De novo

-

Yuen2017 G

DLG2

7-0024-003

chr11:
83765813-83765813

C

T

intronic

De novo

-

Yuen2017 G

DLG2

1-0336-004

chr11:
85312933-85312933

G

A

intronic

De novo

-

Yuen2017 G

DLG2

2-0320-003

chr11:
83633592-83633593

AG

AGG

intronic

De novo

-

Yuen2017 G

DLG2

1-0572-003

chr11:
85301022-85301022

A

C

intronic

De novo

-

Yuen2017 G

DLG2

03C16606

chr11:
83195273-83195275

TGT

T

intronic

Maternal

-

Stessman2017 T

DLG2

1-0059-003

chr11:
83450524-83450524

A

ATATT

intronic

De novo

-

Yuen2017 G

DLG2

AU066403

chr11:
85136902-85136902

C

T

intronic

De novo

-

Yuen2017 G

DLG2

2-0145-004

chr11:
83199043-83199043

G

A

intronic

De novo

-

Yuen2017 G

DLG2

AU058103

chr11:
84273427-84273427

A

G

intronic

De novo

-

Yuen2017 G

DLG2

1-0706-003

chr11:
84048017-84048018

AT

ATTT

intronic

De novo

-

Yuen2017 G

DLG2

1-0173-004

chr11:
84662180-84662180

T

C

intronic

De novo

-

Yuen2017 G

DLG2

2-1146-003

chr11:
84620706-84620706

A

G

intronic

De novo

-

Yuen2017 G

DLG2

AU4310301

chr11:
83559166-83559166

C

T

intronic

De novo

-

Yuen2017 G

DLG2

AU4344301

chr11:
85320061-85320061

T

C

intronic

De novo

-

Yuen2017 G

DLG2

Krgovic2022:025324

chr11:
84822777-84822777

T

C

exonic

De novo

synonymous SNV

NM_001142699

c.A285G

p.Q95Q

-

4.097E-5

Krgovic2022 E

DLG2

2-1146-003

chr11:
84914697-84914697

A

G

intronic

De novo

-

Yuen2017 G

DLG2

GX0245.p1

chr11:
83344300-83344300

C

T

exonic

Paternal

nonsynonymous SNV

NM_001142702
NM_001142700
NM_001206769
NM_001300983
NM_001364
NM_001142699

c.G25A
c.G1270A
c.G1696A
c.G1579A
c.G1579A
c.G1894A

p.G9R
p.G424R
p.G566R
p.G527R
p.G527R
p.G632R

36.0

8.303E-6

Guo2018 T

DLG2

AU1698301

chr11:
84268620-84268620

T

C

intronic

De novo

-

Yuen2017 G

DLG2

AU2137304

chr11:
83316662-83316662

G

A

intronic

De novo

-

Yuen2017 G

DLG2

2-1341-004

chr11:
83252678-83252678

G

T

intronic

De novo

-

8.907E-6

Yuen2017 G

DLG2

1-0206-005

chr11:
85224852-85224852

C

A

intronic

De novo

-

Yuen2017 G

DLG2

1-0257-003

chr11:
84106240-84106240

C

T

intronic

De novo

-

Yuen2017 G

DLG2

AU3801301

chr11:
83461330-83461330

C

G

intronic

De novo

-

Yuen2017 G

DLG2

M21586

chr11:
83344359-83344359

C

T

exonic

Maternal

nonsynonymous SNV

NM_001142700
NM_001206769
NM_001300983
NM_001364
NM_001142699

c.G1211A
c.G1637A
c.G1520A
c.G1520A
c.G1835A

p.R404Q
p.R546Q
p.R507Q
p.R507Q
p.R612Q

34.0

-

Guo2018 T
Wang2016 T

DLG2

2-1305-003

chr11:
83180643-83180643

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DLG2

SP0123403

chr11:
83641389-83641389

G

C

exonic

De novo

nonsynonymous SNV

NM_001206769
NM_001300983
NM_001364
NM_001142699

c.C1280G
c.C1163G
c.C1163G
c.C1478G

p.P427R
p.P388R
p.P388R
p.P493R

22.4

-

Fu2022 E

DLG2

M12341

chr11:
84996284-84996284

T

A

exonic

Paternal

stopgain

NM_001142699

c.A166T

p.R56X

13.59

-

Guo2018 T
Stessman2017 T
Wang2016 T

DLG2

1-0458-003

chr11:
85109182-85109182

A

T

intronic

De novo

-

Yuen2017 G

DLG2

SP0024187

chr11:
84028195-84028195

C

G

UTR5

De novo

-

Fu2022 E

DLG2

1-0032-003

chr11:
84755768-84755768

C

G

intronic

De novo

-

Yuen2017 G

DLG2

2-1322-003

chr11:
84052495-84052495

C

G

intronic

De novo

-

Yuen2017 G

DLG2

2-1322-003

chr11:
83305677-83305677

T

A

intronic

De novo

-

Yuen2017 G

DLG2

2-0109-003

chr11:
85027530-85027530

A

G

intronic

De novo

-

Yuen2017 G

DLG2

2-1629-003

chr11:
84330122-84330122

C

T

intronic

De novo

-

Yuen2017 G

DLG2

1-0555-003

chr11:
84138819-84138819

T

C

intronic

De novo

-

Yuen2017 G

DLG2

AU079605

chr11:
83460736-83460736

G

A

intronic

De novo

-

Yuen2017 G

DLG2

1-0186-004

chr11:
83378694-83378694

G

C

intronic

De novo

-

Yuen2017 G

DLG2

1-0201-005

chr11:
84372880-84372880

A

T

intronic

De novo

-

Yuen2017 G

DLG2

5-0123-003

chr11:
84203555-84203555

T

A

intronic

De novo

-

Yuen2017 G

DLG2

AU038203

chr11:
85082278-85082278

T

C

intronic

De novo

-

Yuen2017 G

DLG2

2-1215-003

chr11:
84194425-84194425

G

C

intronic

De novo

-

Yuen2017 G

DLG2

AU4394302

chr11:
84718603-84718603

G

A

intronic

De novo

-

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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