Variant Results

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Results for "DAPK1"

Variant Events: 13

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

DAPK1

00HI1751A

chr9:
90318054-90318054

C

T

exonic

De novo

synonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.C2982T
c.C2982T
c.C2982T
c.C2982T

p.D994D
p.D994D
p.D994D
p.D994D

-

-

Satterstrom2020 E

DAPK1

AU3790301

chr9:
90120562-90120562

G

A

intronic

De novo

-

-

Yuen2017 G

DAPK1

A15

chr9:
90334123-90334123

A

G

intergenic

De novo

-

-

Wu2018 G

DAPK1

2-1525-003

chr9:
90217466-90217466

C

T

intronic

De novo

-

-

Yuen2017 G

DAPK1

AU047904

chr9:
90245500-90245500

G

A

intronic

De novo

-

-

Yuen2017 G

DAPK1

09C99931

chr9:
90301541-90301541

C

T

exonic

De novo

nonsynonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.C2300T
c.C2300T
c.C2300T
c.C2300T

p.P767L
p.P767L
p.P767L
p.P767L

28.3

-

Satterstrom2020 E

DAPK1

13884.p1

chr9:
90264933-90264933

G

A

exonic

De novo

nonsynonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.G1526A
c.G1526A
c.G1526A
c.G1526A

p.R509Q
p.R509Q
p.R509Q
p.R509Q

19.91

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

DAPK1

1-0024-003

chr9:
90301541-90301541

C

T

exonic

De novo

nonsynonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.C2300T
c.C2300T
c.C2300T
c.C2300T

p.P767L
p.P767L
p.P767L
p.P767L

28.3

-

Yuen2016 G
Yuen2017 G

DAPK1

1-0007-003

chr9:
90328368-90328382

CGTGTGTGTGTGTGT

CGTGTGTGTGTGT

intergenic

De novo

-

-

Yuen2017 G

DAPK1

AU3903301

chr9:
90267687-90267687

G

A

intronic

De novo

-

-

Yuen2017 G

DAPK1

11414.p1

chr9:
90263666-90263666

T

C

intronic

De novo

-

-

Satterstrom2020 E

DAPK1

1-0215-006

chr9:
90256810-90256810

T

C

intronic

De novo

-

-

Yuen2017 G

DAPK1

AU3635301

chr9:
90301768-90301768

C

T

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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