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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     2-1416-004chr3:
196797752-196797752
GGTintronicDe novo--Yuen2017 G
DLG1     1-0043-004chr3:
197016347-197016347
TCintronicDe novo--Yuen2017 G
DLG1     1-0373-003chr3:
196823153-196823153
CTintronicDe novo--Yuen2017 G
DLG1     A11chr3:
196830215-196830215
CTintronicDe novo--Wu2018 G
DLG1     AU3903301chr3:
196818307-196818307
TCintronicDe novo--Yuen2017 G
DLG1     1-0524-003chr3:
196896854-196896854
CGintronicDe novo--Yuen2016 G
Yuen2017 G
DLG1     13301.p1chr3:
196817764-196817764
TCintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
DLG1     SP0027671chr3:
196857413-196857413
GAexonicDe novononsynonymous SNVNM_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     AU4306302chr3:
196899786-196899786
AGintronicDe novo--Yuen2017 G
DLG1     5-0017-003chr3:
196970821-196970821
GCintronicDe novo--Yuen2017 G
DLG1     13129.p1chr3:
197023283-197023283
GAexonicMosaicstopgainNM_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     AU008505chr3:
196846906-196846906
GAintronicDe novo--Yuen2017 G
DLG1     A13chr3:
196875433-196875433
GAintronicDe novo--Wu2018 G
DLG1     AU076508chr3:
196950612-196950612
ATintronicDe novo--Yuen2017 G
DLG1     AU3154302chr3:
197018609-197018609
AGintronicDe novo--Yuen2017 G
DLG1     11089.p1chr3:
196811813-196811813
AGintronicDe novo--Turner2016 G
Source Variant Information

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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 notesView
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