Variant Results

or

Results for "DGKI"

Variant Events: 49

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

DGKI

1021012

chr7:
137080409-137080409

G

A

exonic

De novo

nonsynonymous SNV

NM_004717

c.C3016T

p.R1006W

19.32

8.249E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DGKI

SP0011108

chr7:
137237102-137237102

T

G

intronic

De novo

-

Fu2022 E

DGKI

AU4032305

chr7:
137544846-137544846

T

A

intergenic

De novo

-

Yuen2017 G

DGKI

1-0007-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

DGKI

2-1290-003

chr7:
137435573-137435573

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKI

AU4286302

chr7:
137264265-137264265

A

T

intronic

De novo

-

Yuen2017 G

DGKI

2-1291-003

chr7:
137349085-137349085

C

G

intronic

De novo

-

Yuen2016 G

DGKI

AU025704

chr7:
137468706-137468706

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKI

AU2019302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

DGKI

AU4359301

chr7:
137452276-137452276

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKI

More2023:4

chr7:
137531385-137531385

C

A

exonic

De novo

nonsynonymous SNV

NM_004717

c.G224T

p.G75V

15.0

-

More2023 G

DGKI

1-0634-003

chr7:
137176602-137176603

AC

A

intronic

De novo

-

Trost2022 G

DGKI

7-0077-003

chr7:
137206755-137206755

G

A

intronic

De novo

-

8.119E-5

Trost2022 G
Yuen2017 G

DGKI

REACH000713

chr7:
137184888-137184888

T

C

intronic

De novo

-

Trost2022 G

DGKI

mAGRE3105

chr7:
137178544-137178544

C

CTA

exonic

Maternal

stopgain

NM_004717

c.2286_2287insTA

p.V763_Q764delinsX

-

Cirnigliaro2023 G

DGKI

2-1815-003

chr7:
137134235-137134235

A

C

intronic

De novo

-

Trost2022 G

DGKI

mAGRE3103

chr7:
137178544-137178544

C

CTA

exonic

Maternal

stopgain

NM_004717

c.2286_2287insTA

p.V763_Q764delinsX

-

Cirnigliaro2023 G

DGKI

MSSNG00165-003

chr7:
137172713-137172713

T

C

intronic

De novo

-

Trost2022 G

DGKI

1-0874-003

chr7:
137303386-137303386

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKI

MSSNG00357-003

chr7:
137092862-137092862

G

A

intronic

De novo

-

Trost2022 G

DGKI

MSSNG00247-003

chr7:
137101869-137101869

T

G

intronic

De novo

-

Trost2022 G

DGKI

1-1011-003

chr7:
137076182-137076182

C

A

intronic

De novo

-

Trost2022 G

DGKI

5-5203-003

chr7:
137090847-137090847

G

T

intronic

De novo

-

Trost2022 G

DGKI

MSSNG00140-003

chr7:
137402033-137402033

C

T

intronic

De novo

-

Trost2022 G

DGKI

3-0471-000

chr7:
137410853-137410854

TA

T

intronic

De novo

-

Trost2022 G

DGKI

MT_18.3

chr7:
137280250-137280253

ATTC

A

intronic

De novo

-

Trost2022 G

DGKI

SP0078519

chr7:
137363427-137363427

A

AT

intronic

De novo

-

0.0033

Trost2022 G

DGKI

7-0294-003

chr7:
137221779-137221779

G

A

intronic

De novo

-

Trost2022 G

DGKI

5-5237-003

chr7:
137271252-137271252

C

T

intronic

De novo

-

Trost2022 G

DGKI

1-1115-003

chr7:
137186356-137186356

G

A

intronic

De novo

-

Trost2022 G

DGKI

MSSNG00019-003A

chr7:
137201256-137201256

C

T

intronic

De novo

-

Trost2022 G

DGKI

MSSNG00012-003

chr7:
137472065-137472065

C

T

intronic

De novo

-

Trost2022 G

DGKI

3-0161-000

chr7:
137488127-137488127

T

C

intronic

De novo

-

Trost2022 G

DGKI

5-5171-003

chr7:
137450960-137450960

T

C

intronic

De novo

-

Trost2022 G

DGKI

MT_170.3

chr7:
137462383-137462383

G

T

intronic

De novo

-

Trost2022 G

DGKI

7-0171-003

chr7:
137441821-137441821

C

T

intronic

De novo

-

Trost2022 G

DGKI

2-0198-003

chr7:
137130995-137130995

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKI

AU2310301

chr7:
137449606-137449606

C

A

intronic

De novo

-

Trost2022 G

DGKI

4-0094-003

chr7:
137415853-137415853

G

A

intronic

De novo

-

Trost2022 G

DGKI

2-1776-003

chr7:
137416977-137416977

G

A

intronic

De novo

-

Trost2022 G

DGKI

AU3263302

chr7:
137157441-137157441

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKI

1-0446-003

chr7:
137502009-137502009

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DGKI

5-0019-003

chr7:
137515863-137515863

C

T

intronic

De novo

-

Trost2022 G

DGKI

5-5177-003

chr7:
137522751-137522751

T

C

intronic

De novo

-

Trost2022 G

DGKI

2-1154-003

chr7:
137502543-137502543

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DGKI

iHART3105

chr7:
137178544-137178544

C

CTA

exonic

Maternal

stopgain

NM_004717

c.2286_2287insTA

p.V763_Q764delinsX

-

Ruzzo2019 G

DGKI

iHART3103

chr7:
137178544-137178544

C

CTA

exonic

Maternal

stopgain

NM_004717

c.2286_2287insTA

p.V763_Q764delinsX

-

Ruzzo2019 G

DGKI

13171.p1

chr7:
137289827-137289827

G

A

intronic

De novo

-

Turner2016 G

DGKI

1-0191-003

chr7:
137124355-137124355

G

A

intronic

De novo

-

Trost2022 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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