Variant Results

or

Results for "DAG1"

Variant Events: 13

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

DAG1

10C108663

chr3:
49570115-49570115

C

T

exonic

De novo

nonsynonymous SNV

NM_001177639
NM_001177643
NM_001177644
NM_004393
NM_001177635
NM_001177637
NM_001177638
NM_001177640
NM_001177641
NM_001177642
NM_001177636
NM_001165928
NM_001177634

c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T

p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L

10.87

-

Neale2012 E

DAG1

MT_40.3

chr3:
49546458-49546458

C

T

intronic

De novo

-

Trost2022 G

DAG1

7-0331-003

chr3:
49557681-49557681

G

A

intronic

De novo

-

Trost2022 G

DAG1

3-0607-001

chr3:
49540175-49540175

C

A

intronic

De novo

-

Trost2022 G

DAG1

3-0774-000A

chr3:
49542740-49542740

G

T

intronic

De novo

-

Trost2022 G

DAG1

MSSNG00434-003

chr3:
49508092-49508092

C

T

intronic

De novo

-

Trost2022 G

DAG1

1-0264-005

chr3:
49513456-49513456

G

A

intronic

De novo

-

Trost2022 G

DAG1

SSC06564

chr3:
49570350-49570350

C

T

exonic

De novo

synonymous SNV

NM_001177639
NM_001177643
NM_001177644
NM_004393
NM_001177635
NM_001177637
NM_001177638
NM_001177640
NM_001177641
NM_001177642
NM_001177636
NM_001165928
NM_001177634

c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T

p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D

-

1.0E-4

Fu2022 E
Trost2022 G

DAG1

MSSNG00033-003

chr3:
49559219-49559219

G

A

intronic

De novo

-

Trost2022 G

DAG1

MSSNG00033-004

chr3:
49559219-49559219

G

A

intronic

De novo

-

Trost2022 G

DAG1

1360JS0033

chr3:
49570115-49570115

C

T

exonic

De novo

nonsynonymous SNV

NM_001177639
NM_001177643
NM_001177644
NM_004393
NM_001177635
NM_001177637
NM_001177638
NM_001177640
NM_001177641
NM_001177642
NM_001177636
NM_001165928
NM_001177634

c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T

p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L

10.87

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DAG1

13065.p1

chr3:
49570350-49570350

C

T

exonic

De novo

synonymous SNV

NM_001177639
NM_001177643
NM_001177644
NM_004393
NM_001177635
NM_001177637
NM_001177638
NM_001177640
NM_001177641
NM_001177642
NM_001177636
NM_001165928
NM_001177634

c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T
c.C2406T

p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D
p.D802D

-

1.0E-4

Satterstrom2020 E
Zhou2022 GE

DAG1

12418.p1

chr3:
49569736-49569736

C

T

exonic

De novo

nonsynonymous SNV

NM_001177639
NM_001177643
NM_001177644
NM_004393
NM_001177635
NM_001177637
NM_001177638
NM_001177640
NM_001177641
NM_001177642
NM_001177636
NM_001165928
NM_001177634

c.C1792T
c.C1792T
c.C1792T
c.C1792T
c.C1792T
c.C1792T
c.C1792T
c.C1792T
c.C1792T
c.C1792T
c.C1792T
c.C1792T
c.C1792T

p.R598C
p.R598C
p.R598C
p.R598C
p.R598C
p.R598C
p.R598C
p.R598C
p.R598C
p.R598C
p.R598C
p.R598C
p.R598C

14.26

8.289E-6

Ji2016 E
Krumm2015 E
Lim2017 E
Wilfert2021 G
Zhou2022 GE

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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