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Results for "DLG4"

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
DLG4     SD0392.p1chr17:
7122166-7122166
CTexonicUnknownnonsynonymous SNVNM_001365c.G3Ap.M1I17.16-Wang2020 T
Wang2020 T
DLG4     SF0115411.p1chr17:
7106787-7106787
GAexonicDe novononsynonymous SNVNM_001128827
NM_001365
c.C452T
c.C590T
p.P151L
p.P197L
11.054.981E-5Wang2020 T
DLG4     519.03chr17:
7096826-7096826
CTexonicUnknownnonsynonymous SNVNM_001128827
NM_001365
c.G1660A
c.G1798A
p.D554N
p.D600N
26.29.167E-6Wang2020 T
Wang2020 T
DLG4     SF0091645.p1chr17:
7106786-7106786
CCGexonicDe novoframeshift insertionNM_001128827
NM_001365
c.452dupC
c.590dupC
p.P151fs
p.P197fs
--Wang2020 T
DLG4     AU3881301chr17:
7094977-7094977
GAintronicDe novo--Yuen2017 G
DLG4     312.03chr17:
7096823-7096823
TAexonicUnknownstopgainNM_001128827
NM_001365
c.A1663T
c.A1801T
p.K555X
p.K601X
42.0-Wang2020 T
Wang2020 T
DLG4     201.03chr17:
7121959-7121959
CGsplicingDe novosplicing16.074.398E-5Wang2020 T
Wang2020 T
DLG4     1246chr17:
7097312-7097312
GAexonicDe novostopgainNM_001128827
NM_001365
c.C1477T
c.C1615T
p.R493X
p.R539X
40.0-Wang2020 T
Wang2020 T
DLG4     200.03chr17:
7099824-7099824
GAexonicUnknownnonsynonymous SNVNM_001128827
NM_001365
c.C1145T
c.C1283T
p.T382M
p.T428M
22.3-Wang2020 T
Wang2020 T
DLG4     AU3859301chr17:
7115246-7115246
CTintronicDe novo--Yuen2017 G
DLG4     M12309chr17:
7096416-7096416
CTexonicUnknownnonsynonymous SNVNM_001128827
NM_001365
c.G1705A
c.G1843A
p.E569K
p.E615K
21.7-Stessman2017 T
Wang2020 T
Wang2020 T
DLG4     SF0146131.p1chr17:
7099876-7099876
GAexonicDe novostopgainNM_001128827
NM_001365
c.C1093T
c.C1231T
p.R365X
p.R411X
38.0-Wang2020 T
DLG4     SF0008325.p1chr17:
7099876-7099876
GAexonicDe novostopgainNM_001128827
NM_001365
c.C1093T
c.C1231T
p.R365X
p.R411X
38.0-Wang2020 T
DLG4     217-14182-2960chr17:
7094041-7094041
GAexonicPaternalstopgainNM_001128827
NM_001365
c.C2152T
c.C2290T
p.R718X
p.R764X
38.01.658E-5Stessman2017 T
Wang2020 T
Wang2020 T
DLG4     AU3905301chr17:
7100426-7100426
CTintronicDe novo--Yuen2017 G
DLG4     G9A6Qchr17:
7097695-7097695
CTexonicInherited, Unknownnonsynonymous SNVNM_001128827
NM_001365
c.G1412A
c.G1550A
p.R471Q
p.R517Q
35.02.042E-5Stessman2017 T
Wang2020 T
Wang2020 T
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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