Variant Results

or

Results for "DLG1"

Variant Events: 16

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

DLG1

2-1416-004

chr3:
196797752-196797752

G

GT

intronic

De novo

-

Yuen2017 G

DLG1

1-0043-004

chr3:
197016347-197016347

T

C

intronic

De novo

-

Yuen2017 G

DLG1

1-0373-003

chr3:
196823153-196823153

C

T

intronic

De novo

-

Yuen2017 G

DLG1

A11

chr3:
196830215-196830215

C

T

intronic

De novo

-

Wu2018 G

DLG1

AU3903301

chr3:
196818307-196818307

T

C

intronic

De novo

-

Yuen2017 G

DLG1

1-0524-003

chr3:
196896854-196896854

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DLG1

13301.p1

chr3:
196817764-196817764

T

C

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

DLG1

SP0027671

chr3:
196857413-196857413

G

A

exonic

De novo

nonsynonymous SNV

NM_001204387
NM_001204388
NM_001204386
NM_001098424
NM_001290983
NM_004087

c.C901T
c.C901T
c.C1150T
c.C1249T
c.C1249T
c.C1249T

p.P301S
p.P301S
p.P384S
p.P417S
p.P417S
p.P417S

16.87

-

Feliciano2019 E

DLG1

AU4306302

chr3:
196899786-196899786

A

G

intronic

De novo

-

Yuen2017 G

DLG1

5-0017-003

chr3:
196970821-196970821

G

C

intronic

De novo

-

Yuen2017 G

DLG1

13129.p1

chr3:
197023283-197023283

G

A

exonic

Mosaic

stopgain

NM_001098424
NM_001204386
NM_001290983
NM_004087

c.C85T
c.C85T
c.C85T
c.C85T

p.Q29X
p.Q29X
p.Q29X
p.Q29X

40.0

-

Krupp2017 E

DLG1

AU008505

chr3:
196846906-196846906

G

A

intronic

De novo

-

Yuen2017 G

DLG1

A13

chr3:
196875433-196875433

G

A

intronic

De novo

-

Wu2018 G

DLG1

AU076508

chr3:
196950612-196950612

A

T

intronic

De novo

-

Yuen2017 G

DLG1

AU3154302

chr3:
197018609-197018609

A

G

intronic

De novo

-

Yuen2017 G

DLG1

11089.p1

chr3:
196811813-196811813

A

G

intronic

De novo

-

Turner2016 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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