Variant Results

or

Results for "DGKB"

Variant Events: 130

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

DGKB

052-09-110820

chr7:
14385007-14385007

G

T

exonic

De novo

nonsynonymous SNV

NM_004080
NM_145695

c.C1848A
c.C1848A

p.N616K
p.N616K

16.73

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DGKB

1-0436-003

chr7:
14189722-14189722

A

AAATG

intronic

De novo

-

Yuen2016 G

DGKB

5-0045-003

chr7:
14587500-14587500

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

2-1269-003

chr7:
14623644-14623644

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DGKB

AU2029301

chr7:
14771174-14771174

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

AU3053301

chr7:
14749818-14749818

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

1-0377-003

chr7:
14930286-14930287

CG

C

intergenic

De novo

-

Yuen2017 G

DGKB

1-0358-003

chr7:
15193475-15193479

ATTTT

A

intergenic

De novo

-

Yuen2017 G

DGKB

AU2458303

chr7:
15093690-15093690

G

A

intergenic

De novo

-

Yuen2017 G

DGKB

AU3763305

chr7:
14535558-14535558

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

1-0520-003

chr7:
14862677-14862679

CAT

C

intronic

De novo

-

Yuen2016 G

DGKB

AU4173301

chr7:
14560092-14560092

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

AU1355301

chr7:
14627519-14627519

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

AU3913301

chr7:
14366517-14366517

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

2-1581-003

chr7:
14538735-14538735

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

1-0433-004

chr7:
14346797-14346797

G

GCT

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

1-0213-003

chr7:
14475166-14475166

C

T

intronic

De novo

-

Yuen2016 G

DGKB

2-0289-004

chr7:
14850580-14850580

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

AU062204

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

DGKB

1-0494-003

chr7:
14307335-14307335

C

T

intronic

De novo

-

Yuen2017 G

DGKB

12680.p1

chr7:
14563287-14563287

C

T

intronic

De novo

-

Turner2016 G

DGKB

1-0112-003

chr7:
14821681-14821681

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

2-0126-004

chr7:
14520125-14520125

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

AU072505

chr7:
14583393-14583393

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

AU3761301

chr7:
14485343-14485343

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

AU3761301

chr7:
14643015-14643015

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

2-0126-004

chr7:
14715942-14715942

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

2-0242-003

chr7:
14427017-14427017

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

2-1222-003

chr7:
14974222-14974222

G

A

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DGKB

1-0755-003

chr7:
14448814-14448814

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

SP0108575

chr7:
14758307-14758307

A

C

exonic

De novo

nonsynonymous SNV

NM_004080
NM_145695

c.T326G
c.T326G

p.L109R
p.L109R

9.803

-

Fu2022 E

DGKB

AU3725302

chr7:
14990984-14990984

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

2-1434-003

chr7:
14959525-14959525

T

G

intergenic

De novo

-

Yuen2016 G

DGKB

1-0068-003

chr7:
15179641-15179641

A

G

intergenic

De novo

-

Yuen2017 G

DGKB

1-0068-003

chr7:
14874591-14874591

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

1-0252-003

chr7:
14894453-14894457

CTGAT

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

1-0435-003

chr7:
15221547-15221547

T

G

intergenic

De novo

-

Yuen2017 G

DGKB

AU2156303

chr7:
15008274-15008274

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

5-0133-003

chr7:
14409105-14409105

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

1-0300-003

chr7:
14199119-14199119

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

2-1620-004

chr7:
14667365-14667365

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

7-0095-003

chr7:
14674944-14674944

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

AU3302302

chr7:
14964886-14964886

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

A28

chr7:
14599242-14599242

C

T

intronic

De novo

-

Wu2018 G

DGKB

1-0494-003A

chr7:
14307335-14307335

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

SJD_49.3

chr7:
14231089-14231089

T

C

intronic

De novo

-

Trost2022 G

DGKB

AU055603

chr7:
14236919-14236919

G

T

intronic

De novo

-

Trost2022 G

DGKB

5-0002-003

chr7:
14205944-14205944

A

G

intronic

De novo

-

Trost2022 G

DGKB

3-0207-000

chr7:
14228492-14228492

A

G

intronic

De novo

-

Trost2022 G

DGKB

REACH000228

chr7:
14198632-14198632

A

C

intronic

De novo

-

Trost2022 G

DGKB

AU031204

chr7:
15024716-15024716

G

A

intergenic

De novo

-

Yuen2017 G

DGKB

AU2221301

chr7:
14353787-14353787

T

TA

intronic

De novo

-

Trost2022 G

DGKB

MSSNG00153-003

chr7:
14362030-14362030

A

C

intronic

De novo

-

Trost2022 G

DGKB

1-0952-003

chr7:
14346939-14346939

T

TTTCCA

intronic

De novo

-

Trost2022 G

DGKB

REACH000525

chr7:
14351996-14351996

G

A

intronic

De novo

-

Trost2022 G

DGKB

1-0262-003A

chr7:
14271106-14271106

T

C

intronic

De novo

-

Trost2022 G

DGKB

1-0330-004

chr7:
14346797-14346797

G

GCT

intronic

De novo

-

Trost2022 G

DGKB

3-0207-000

chr7:
14240993-14240993

C

T

intronic

De novo

-

Trost2022 G

DGKB

3-0731-001A

chr7:
14249926-14249926

T

C

intronic

De novo

-

Trost2022 G

DGKB

MSSNG00048-003

chr7:
14437060-14437060

T

G

intronic

De novo

-

Trost2022 G

DGKB

2-1430-005A

chr7:
14439389-14439389

T

C

intronic

De novo

-

Trost2022 G

DGKB

Wang2023:480

chr7:
14741338-14741338

C

A

exonic

De novo

nonsynonymous SNV

NM_004080
NM_145695

c.G484T
c.G484T

p.D162Y
p.D162Y

27.0

-

Wang2023 E

DGKB

MSSNG00105-004

chr7:
14432273-14432273

G

A

intronic

De novo

-

Trost2022 G

DGKB

REACH000092

chr7:
14436493-14436493

G

A

intronic

De novo

-

Trost2022 G

DGKB

MT_56.3

chr7:
14387739-14387739

C

G

intronic

De novo

-

Trost2022 G

DGKB

REACH000233

chr7:
14419307-14419307

C

A

intronic

De novo

-

Trost2022 G

DGKB

MSSNG00053-003

chr7:
14373887-14373887

C

A

intronic

De novo

-

Trost2022 G

DGKB

7-0416-003

chr7:
14385454-14385454

A

C

intronic

De novo

-

Trost2022 G

DGKB

1-1161-003

chr7:
14531990-14531990

C

T

intronic

De novo

-

Trost2022 G

DGKB

1-0291-003

chr7:
14550997-14550997

T

G

intronic

De novo

-

Trost2022 G

DGKB

1-0514-003

chr7:
14243842-14243842

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DGKB

AU046707

chr7:
14863221-14863221

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

MT_73.3

chr7:
14507425-14507425

T

C

intronic

De novo

-

Trost2022 G

DGKB

1-1179-003

chr7:
14512006-14512006

G

A

intronic

De novo

-

Trost2022 G

DGKB

X3N7Y_01

chr7:
14484078-14484078

A

T

intronic

De novo

-

Trost2022 G

DGKB

4-0062-003

chr7:
14494941-14494942

TT

AA

intronic

De novo

-

Trost2022 G

DGKB

MSSNG00333-003

chr7:
14455046-14455046

T

C

intronic

De novo

-

Trost2022 G

DGKB

REACH000559

chr7:
14481164-14481167

CATT

C

intronic

De novo

-

Trost2022 G

DGKB

MSSNG00412-003

chr7:
14642856-14642856

G

A

intronic

De novo

-

Trost2022 G

DGKB

SP0247759

chr7:
14647098-14647098

C

A

exonic

De novo

nonsynonymous SNV

NM_004080
NM_145695

c.G1397T
c.G1397T

p.R466L
p.R466L

28.5

-

Trost2022 G

DGKB

1018

chr7:
14579991-14579991

A

G

intronic

De novo

-

Trost2022 G

DGKB

REACH000718

chr7:
14584039-14584039

G

C

intronic

De novo

-

Trost2022 G

DGKB

2-1120-003

chr7:
14570442-14570442

T

A

intronic

De novo

-

Trost2022 G

DGKB

2-1120-003

chr7:
14570444-14570444

A

AT

intronic

De novo

-

Trost2022 G

DGKB

MSSNG00364-003

chr7:
14558889-14558889

C

A

intronic

De novo

-

Trost2022 G

DGKB

MSSNG00364-003

chr7:
14567254-14567254

G

T

intronic

De novo

-

Trost2022 G

DGKB

MSSNG00028-003

chr7:
14735868-14735868

C

G

intronic

De novo

-

Trost2022 G

DGKB

MSSNG00028-003

chr7:
14736182-14736182

C

A

intronic

De novo

-

Trost2022 G

DGKB

5-0021-003

chr7:
14947553-14947553

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

4-0111-003

chr7:
14727982-14727982

T

C

intronic

De novo

-

Trost2022 G

DGKB

AU2072302

chr7:
14940404-14940404

G

A

intergenic

De novo

-

Yuen2017 G

DGKB

5-5065-003

chr7:
14729779-14729779

C

T

intronic

De novo

-

Trost2022 G

DGKB

Costa2023:P4-1

chr7:
14722266-14722266

T

A

exonic

De novo

nonsynonymous SNV

NM_004080
NM_145695

c.A947T
c.A947T

p.N316I
p.N316I

23.3

-

Costa2023 E

DGKB

5-0097-003

chr7:
14718020-14718020

C

T

intronic

De novo

-

Trost2022 G

DGKB

1-0446-003

chr7:
14768946-14768946

A

G

intronic

De novo

-

Yuen2017 G

DGKB

1-0350-003

chr7:
14722720-14722722

TCA

ATT

intronic

De novo

-

Trost2022 G

DGKB

2-1210-003

chr7:
14400511-14400511

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

1-0410-003

chr7:
14661457-14661457

T

C

intronic

De novo

-

Trost2022 G

DGKB

AU1725306

chr7:
14595570-14595570

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

3-0461-000

chr7:
14680999-14680999

G

T

intronic

De novo

-

Trost2022 G

DGKB

1-0649-003

chr7:
14853577-14853577

T

C

intronic

De novo

-

Trost2022 G

DGKB

4-0054-003

chr7:
14861599-14861599

A

G

intronic

De novo

-

Trost2022 G

DGKB

1-0232-004

chr7:
15093816-15093816

G

T

intergenic

De novo

-

Yuen2017 G

DGKB

1-1072-003

chr7:
14806766-14806766

T

TA

intronic

De novo

-

Trost2022 G

DGKB

2-0323-003

chr7:
14612184-14612184

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

2-0300-003

chr7:
14808144-14808146

AGA

TCT

intronic

De novo

-

Trost2022 G

DGKB

2-0725-003

chr7:
14768685-14768685

C

T

intronic

De novo

-

Trost2022 G

DGKB

3-0216-000

chr7:
14949623-14949623

G

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

3-0659-000

chr7:
14806300-14806300

A

C

intronic

De novo

-

Trost2022 G

DGKB

5-5237-003

chr7:
14740785-14740785

T

G

intronic

De novo

-

Trost2022 G

DGKB

AU2320301

chr7:
14757648-14757648

T

C

intronic

De novo

-

Trost2022 G

DGKB

MSSNG00013-004

chr7:
14918523-14918523

G

A

intergenic

De novo

-

Trost2022 G

DGKB

1-1123-003

chr7:
14935655-14935655

T

G

intergenic

De novo

-

Trost2022 G

DGKB

MSSNG00108-004

chr7:
14914493-14914493

T

C

intergenic

De novo

-

Trost2022 G

DGKB

7-0361-003

chr7:
14917422-14917422

G

T

intergenic

De novo

-

Trost2022 G

DGKB

2-0149-003

chr7:
14987589-14987589

T

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

5-0009-003

chr7:
14901533-14901533

T

A

intergenic

De novo

-

Trost2022 G

DGKB

1-0562-004

chr7:
14907365-14907365

T

C

intergenic

De novo

-

Trost2022 G

DGKB

AU3874302

chr7:
15219966-15219966

G

C

intergenic

De novo

-

Yuen2017 G

DGKB

4-0111-003

chr7:
14871920-14871920

C

A

intronic

De novo

-

Trost2022 G

DGKB

2-1743-004A

chr7:
14894299-14894299

G

A

intergenic

De novo

-

Trost2022 G

DGKB

2-1294-004

chr7:
15012802-15012802

A

C

intergenic

De novo

-

Trost2022 G

DGKB

A13

chr7:
15060167-15060167

G

T

intergenic

De novo

-

Wu2018 G

DGKB

MSSNG00352-004

chr7:
15010277-15010277

G

A

intergenic

De novo

-

Trost2022 G

DGKB

AU3937301

chr7:
14994535-14994535

A

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

DGKB

1-0952-003

chr7:
15011080-15011080

G

T

intergenic

De novo

-

Trost2022 G

DGKB

MT_186.4

chr7:
14972634-14972634

A

G

intergenic

De novo

-

Trost2022 G

DGKB

1-0180-004

chr7:
14982620-14982622

GTC

TGTATG

intergenic

De novo

-

Trost2022 G

DGKB

1-0549-003

chr7:
14965156-14965156

T

C

intergenic

De novo

-

Trost2022 G

DGKB

5-0009-003

chr7:
14969388-14969388

T

G

intergenic

De novo

-

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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