Variant Results

or

or

Results for "DAPK2"

Variant Events: 19

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

DAPK2

1-0347-003

chr15:
64288323-64288323

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DAPK2

SP0083226

chr15:
64275925-64275925

G

A

exonic

De novo

nonsynonymous SNV

NM_014326

c.C121T

p.R41W

18.79

Fu2022 E
Trost2022 G
Zhou2022 GE

DAPK2

SP0080756

chr15:
64215095-64215095

C

T

intronic

De novo

-

-

Fu2022 E
Zhou2022 GE

DAPK2

2-0006-004

chr15:
64361559-64361559

T

G

intergenic

De novo

-

-

Yuen2017 G

DAPK2

2-0295-004

chr15:
64328088-64328094

CAGGGTA

TTCCTGCT

intronic

De novo

-

-

Trost2022 G

DAPK2

7-0123-003

chr15:
64229209-64229209

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DAPK2

7-0351-004

chr15:
64330762-64330762

G

A

intronic

De novo

-

-

Trost2022 G

DAPK2

MSSNG00418-003

chr15:
64322733-64322733

G

T

intronic

De novo

-

-

Trost2022 G

DAPK2

74-0765

chr15:
64275843-64275843

C

A

exonic

Inherited

nonsynonymous SNV

NM_014326

c.G203T

p.R68L

28.2

Patowary2019 E

DAPK2

MSSNG00033-005

chr15:
64326191-64326191

G

A

intronic

De novo

-

-

Trost2022 G

DAPK2

AU3937301

chr15:
64251673-64251673

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DAPK2

7-0260-003

chr15:
64234620-64234620

A

G

intronic

De novo

-

-

Trost2022 G

DAPK2

AU2463301

chr15:
64317216-64317216

G

A

intronic

De novo

-

-

Trost2022 G

DAPK2

2-0242-003

chr15:
64279925-64279925

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DAPK2

1429001

chr15:
64222616-64222616

C

T

exonic

De novo

nonsynonymous SNV

NM_014326

c.G622A

p.A208T

13.28

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DAPK2

AU2165301

chr15:
64215430-64215430

T

C

intronic

De novo

-

-

Yuen2017 G
Zhou2022 GE

DAPK2

AU4013303

chr15:
64268089-64268089

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DAPK2

AU3849302

chr15:
64305950-64305950

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DAPK2

2-1425-004

chr15:
64305495-64305495

C

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
	More