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Results for "DLG4"

Variant Events: 33

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     SAGE_201.03chr17:
7121959-7121959		CGsplicingDe novosplicing16.074.398E-5Wang2020 T
DLG4     ITAN_1246chr17:
7097312-7097312		GAexonicDe novostopgainNM_001128827
NM_001365		c.C1477T
c.C1615T		p.R493X
p.R539X		40.0-Wang2020 T
DLG4     MSSNG00111-004chr17:
7108196-7108196		CTintronicDe novo--Trost2022 G
DLG4     MSSNG00357-003chr17:
7111614-7111614		CAintronicDe novo--Trost2022 G
DLG4     AU2207301chr17:
7103962-7103962		TGintronicDe novo--Trost2022 G
DLG4     AU3881301chr17:
7094977-7094977		GAintronicDe novo--Trost2022 G
Yuen2017 G
DLG4     SF0008325.p1chr17:
7099876-7099876		GAexonicstopgainNM_001128827
NM_001365		c.C1093T
c.C1231T		p.R365X
p.R411X		38.0-Wang2020 T
DLG4     SP0115411chr17:
7106787-7106787		GAexonicDe novononsynonymous SNVNM_001128827
NM_001365		c.C452T
c.C590T		p.P151L
p.P197L		11.054.981E-5Fu2022 E
Trost2022 G
Zhou2022 GE
DLG4     SP0146131chr17:
7099876-7099876		GAexonicDe novostopgainNM_001128827
NM_001365		c.C1093T
c.C1231T		p.R365X
p.R411X		38.0-Fu2022 E
Trost2022 G
Zhou2022 GE
DLG4     M12309chr17:
7096416-7096416		CTexonicUnknownnonsynonymous SNVNM_001128827
NM_001365		c.G1705A
c.G1843A		p.E569K
p.E615K		21.7-Stessman2017 T
DLG4     SanDiego_G9A6Qchr17:
7097695-7097695		CTexonicUnknownnonsynonymous SNVNM_001128827
NM_001365		c.G1412A
c.G1550A		p.R471Q
p.R517Q		35.02.042E-5Wang2020 T
DLG4     SF0091645.p1chr17:
7106786-7106786		CCGexonicframeshift insertionNM_001128827
NM_001365		c.452dupC
c.590dupC		p.P151fs
p.P197fs		--Wang2020 T
DLG4     AU3905301chr17:
7100426-7100426		CTintronicDe novo--Trost2022 G
Yuen2017 G
DLG4     SF0146131.p1chr17:
7099876-7099876		GAexonicstopgainNM_001128827
NM_001365		c.C1093T
c.C1231T		p.R365X
p.R411X		38.0-Wang2020 T
DLG4     G9A6Qchr17:
7097695-7097695		CTexonicInheritednonsynonymous SNVNM_001128827
NM_001365		c.G1412A
c.G1550A		p.R471Q
p.R517Q		35.02.042E-5Stessman2017 T
DLG4     SP0008325chr17:
7099876-7099876		GAexonicDe novostopgainNM_001128827
NM_001365		c.C1093T
c.C1231T		p.R365X
p.R411X		38.0-Fu2022 E
Trost2022 G
Zhou2022 GE
DLG4     SF0115411.p1chr17:
7106787-7106787		GAexonicnonsynonymous SNVNM_001128827
NM_001365		c.C452T
c.C590T		p.P151L
p.P197L		11.054.981E-5Wang2020 T
DLG4     SP0091645chr17:
7106786-7106786		CCGexonicDe novoframeshift insertionNM_001128827
NM_001365		c.452dupC
c.590dupC		p.P151fs
p.P197fs		--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
DLG4     TASC_217-14182-2960chr17:
7094041-7094041		GAexonicPaternalstopgainNM_001128827
NM_001365		c.C2152T
c.C2290T		p.R718X
p.R764X		38.01.658E-5Wang2020 T
DLG4     SAGE_312.03chr17:
7096823-7096823		TAexonicUnknownstopgainNM_001128827
NM_001365		c.A1663T
c.A1801T		p.K555X
p.K601X		42.0-Wang2020 T
DLG4     Wang2023:658chr17:
7100104-7100105		TCTexonicDe novoframeshift deletionNM_001128827
NM_001365		c.1045delG
c.1183delG		p.E349fs
p.E395fs		--Wang2023 E
DLG4     22030.p1chr17:
7096286-7096286		GAexonicnonsynonymous SNVNM_001128827
NM_001365		c.C1835T
c.C1973T		p.S612F
p.S658F		18.51-Zhou2022 GE
DLG4     AU3859301chr17:
7115246-7115246		CTintronicDe novo--Trost2022 G
Yuen2017 G
DLG4     TRE_1246chr17:
7097312-7097312		GAexonicDe novostopgainNM_001128827
NM_001365		c.C1477T
c.C1615T		p.R493X
p.R539X		40.0-Fu2022 E
DLG4     80001103247chr17:
7100251-7100340		CCGAGCAGGTCCTTGGCCACTGGAGAGTAGCGCCGAGGGGAAGTGGGGGTCATGGCTGTGGGGTAGTCGGTGCCCAGGTAGCTGCTGTGACexonicDe novoframeshift deletionNM_001128827
NM_001365		c.810_898del
c.948_1036del		p.S270fs
p.S316fs		--Fu2022 E
DLG4     SP0155407chr17:
7096979-7096979		GAintronicDe novo--Trost2022 G
Zhou2022 GE
DLG4     ACGC_SD0392.p1chr17:
7122166-7122166		CTexonicUnknownnonsynonymous SNVNM_001365c.G3Ap.M1I17.16-Wang2020 T
DLG4     SAGE_200.03chr17:
7099824-7099824		GAexonicUnknownnonsynonymous SNVNM_001128827
NM_001365		c.C1145T
c.C1283T		p.T382M
p.T428M		22.3-Wang2020 T
DLG4     Disecmas_140Pchr17:
7100159-7100159		CTexonicDe novononsynonymous SNVNM_001128827
NM_001365		c.G991A
c.G1129A		p.E331K
p.E377K		35.0-Fu2022 E
DLG4     217-14182-2960chr17:
7094041-7094041		GAexonicPaternalstopgainNM_001128827
NM_001365		c.C2152T
c.C2290T		p.R718X
p.R764X		38.01.658E-5Stessman2017 T
DLG4     131894chr17:
7106770-7106770		CAexonicDe novostopgainNM_001128827
NM_001365		c.G469T
c.G607T		p.E157X
p.E203X		20.5-Fu2022 E
DLG4     SAGE_519.03chr17:
7096826-7096826		CTexonicUnknownnonsynonymous SNVNM_001128827
NM_001365		c.G1660A
c.G1798A		p.D554N
p.D600N		26.29.167E-6Wang2020 T
DLG4     ACGC_M12309chr17:
7096416-7096416		CTexonicUnknownnonsynonymous SNVNM_001128827
NM_001365		c.G1705A
c.G1843A		p.E569K
p.E615K		21.7-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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