Variant Results

or

or

Results for "DGKD"

Variant Events: 24

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

DGKD

1-0389-004

chr2:
234282765-234282765

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DGKD

1-0402-003

chr2:
234370930-234370930

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DGKD

SSC05666

chr2:
234343146-234343146

A

C

intronic

De novo

-

Trost2022 G

DGKD

AU3052302

chr2:
234304707-234304707

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DGKD

REACH000078

chr2:
234365117-234365117

G

A

intronic

De novo

-

-

Trost2022 G

DGKD

12656.p1

chr2:
234343146-234343146

A

C

intronic

De novo

-

Satterstrom2020 E

DGKD

7-0249-004

chr2:
234368330-234368330

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DGKD

AU075210

chr2:
234306469-234306469

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DGKD

21758-34760

chr2:
234377170-234377170

C

T

exonic

nonsynonymous SNV

NM_003648
NM_152879

c.C3394T
c.C3526T

p.L1132F
p.L1176F

28.6

-

Callaghan2019 G

DGKD

1-0059-003

chr2:
234321495-234321495

G

GT

intronic

De novo

-

-

Yuen2017 G

DGKD

13637.p1

chr2:
234339948-234339948

A

G

intronic

De novo

-

-

Wilfert2021 G

DGKD

EGAN00001101036

chr2:
234355323-234355323

T

C

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

DGKD

DEASD_0066_001

chr2:
234350581-234350581

C

CG

exonic

De novo

frameshift insertion

NM_003648
NM_152879

c.1003dupG
c.1135dupG

p.G334fs
p.G378fs

-

-

DeRubeis2014 E
Kosmicki2017 E
Zhou2022 GE

DGKD

AU071703

chr2:
234365333-234365333

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DGKD

08C78688

chr2:
234356988-234356988

G

A

exonic

De novo

synonymous SNV

NM_003648
NM_152879

c.G1449A
c.G1581A

p.E483E
p.E527E

-

-

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

DGKD

AU071703

chr2:
234365344-234365344

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DGKD

2-0135-004

chr2:
234377317-234377317

G

A

intronic

De novo

-

-

Yuen2017 G

DGKD

1-1160-003

chr2:
234346099-234346099

C

T

exonic

De novo

nonsynonymous SNV

NM_003648
NM_152879

c.C764T
c.C896T

p.T255M
p.T299M

17.51

Trost2022 G
Zhou2022 GE

DGKD

1647001

chr2:
234354383-234354383

A

ATT

exonic

De novo

frameshift insertion

NM_003648
NM_152879

c.1177_1178insTT
c.1309_1310insTT

p.R393fs
p.R437fs

-

-

Fu2022 E

DGKD

1-0059-003A

chr2:
234321495-234321495

G

GT

intronic

De novo

-

-

Trost2022 G

DGKD

5-5031-004

chr2:
234329120-234329120

C

G

intronic

De novo

-

-

Trost2022 G

DGKD

REACH000696

chr2:
234296422-234296422

G

C

intronic

De novo

-

-

Trost2022 G

DGKD

3-0826-000

chr2:
234297612-234297612

C

T

intronic

De novo

-

-

Trost2022 G

DGKD

SP0048658

chr2:
234356420-234356420

G

A

intronic

De novo

-

-

Fu2022 E
Trost2022 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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