Variant Results

or

Results for "PRKDC"

Variant Events: 22

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

PRKDC

2-1514-003

chr8:
48739361-48739361

C

G

exonic

De novo

unknown

7.452

-

Yuen2017 G

PRKDC

12266.p1

chr8:
48827944-48827944

C

A

exonic

Mosaic, De novo

unknown

17.63

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G

PRKDC

11839.p1

chr8:
48849076-48849076

G

A

exonic

De novo

unknown

20.2

4.15E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

PRKDC

13451.p1

chr8:
48852146-48852146

A

G

exonic

De novo

unknown

21.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

PRKDC

68655

chr8:
48849076-48849076

G

A

exonic

De novo

unknown

20.2

4.15E-5

Fu2022 E

PRKDC

2-1235-004

chr8:
48764279-48764279

T

G

intronic

De novo

-

Yuen2017 G

PRKDC

11420.p1

chr8:
48730085-48730085

C

T

exonic

Mosaic

unknown

-

Dou2017 E

PRKDC

1-0305-004

chr8:
48804008-48804008

G

A

intronic

De novo

-

Yuen2017 G

PRKDC

NDAR_INVPA848HA2_wes1

chr8:
48710841-48710841

A

G

exonic

De novo

unknown

16.46

-

Lim2017 E

PRKDC

SP0073612

chr8:
48856446-48856446

A

G

intronic

De novo

-

Fu2022 E

PRKDC

SP0005776

chr8:
48706988-48706988

G

A

exonic

De novo

unknown

-

Fu2022 E

PRKDC

2-1715-004

chr8:
48739778-48739782

TGACA

T

intronic

De novo

-

Yuen2017 G

PRKDC

SP0049129

chr8:
48868437-48868437

A

T

exonic

De novo

unknown

-

Feliciano2019 E
Fu2022 E

PRKDC

11002.p1

chr8:
48807196-48807196

G

A

intronic

De novo

-

Turner2016 G

PRKDC

7-0179-003

chr8:
48837263-48837276

ACTCTCTCTCTCTC

ACTCTCTCTCTC

intronic

De novo

-

Yuen2017 G

PRKDC

14496.p1

chr8:
48761230-48761230

G

A

intronic

De novo

-

Turner2016 G

PRKDC

Lim2017:68655

chr8:
48849076-48849076

G

A

exonic

De novo

unknown

20.2

4.15E-5

Lim2017 E

PRKDC

SSC04245

chr8:
48827944-48827944

C

A

exonic

De novo

unknown

17.63

-

Lim2017 E

PRKDC

19283-30834

chr8:
48812932-48812932

C

A

splicing

Inherited

splicing

14.06

-

Callaghan2019 G

PRKDC

SSC09735

chr8:
48852146-48852146

A

G

exonic

De novo

unknown

21.0

-

Fu2022 E
Lim2017 E

PRKDC

AU076509

chr8:
48691029-48691029

G

A

exonic

De novo

unknown

1.089

3.059E-5

Yuen2017 G

PRKDC

5-0138-003

chr8:
48868650-48868650

T

C

intronic

De novo

-

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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