Variant Results

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Results for "DLGAP3"

Variant Events: 15

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

DLGAP3

SP0043417

chr1:
35332880-35332880

T

C

intronic

De novo

-

-

Fu2022 E

DLGAP3

10-0007-003

chr1:
35331939-35331941

AAC

A

intronic

De novo

-

Trost2022 G

DLGAP3

1-0744-003

chr1:
35348481-35348481

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DLGAP3

1-0025-004

chr1:
35424515-35424515

G

A

intergenic

De novo

-

-

Yuen2017 G

DLGAP3

5-0512-005

chr1:
35370952-35370952

A

T

exonic

De novo

nonsynonymous SNV

NM_001080418

c.T33A

p.H11Q

10.52

-

Trost2022 G
Zhou2022 GE

DLGAP3

7-0309-004

chr1:
35392756-35392756

C

T

intronic

De novo

-

-

Trost2022 G

DLGAP3

1876-23644

chr1:
35365715-35365715

G

A

exonic

nonsynonymous SNV

NM_001080418

c.C1267T

p.R423C

18.11

-

Callaghan2019 G

DLGAP3

SP0211548

chr1:
35370782-35370782

C

T

exonic

De novo

nonsynonymous SNV

NM_001080418

c.G203A

p.G68E

9.638

-

Trost2022 G

DLGAP3

7-0258-003

chr1:
35348382-35348382

T

C

intronic

De novo

-

-

Trost2022 G

DLGAP3

REACH000089

chr1:
35392064-35392064

T

C

intronic

De novo

-

-

Trost2022 G

DLGAP3

SJD_79.3

chr1:
35389457-35389458

GT

G

intronic

De novo

-

-

Trost2022 G

DLGAP3

mAGRE4668

chr1:
35370963-35370963

G

A

exonic

Paternal

stopgain

NM_001080418

c.C22T

p.R8X

37.0

-

Cirnigliaro2023 G

DLGAP3

Viggiano2022:105.3

chr1:
35334352-35334352

C

T

exonic

Maternal

nonsynonymous SNV

NM_001080418

c.G2339A

p.R780H

17.46

Viggiano2022 GT

DLGAP3

767_16au

chr1:
35370062-35370062

G

A

exonic

De novo

nonsynonymous SNV

NM_001080418

c.C923T

p.S308L

12.43

Fu2022 E

DLGAP3

2-1160-003

chr1:
35390178-35390178

G

A

intronic

De novo

-

-

Yuen2016 G
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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