Variant Results

or

or

Results for "DCLK3"

Variant Events: 12

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

DCLK3

JASD_Fam0227

chr3:
36759633-36759633

C

T

exonic

De novo

nonsynonymous SNV

NM_033403

c.G1621A

p.V541M

17.12

Takata2018 E

DCLK3

5-0095-003

chr3:
36849278-36849278

G

A

intergenic

De novo

-

-

Yuen2017 G

DCLK3

5-0042-003

chr3:
36763045-36763045

C

T

exonic

De novo

nonsynonymous SNV

NM_033403

c.G1558A

p.V520I

26.5

-

Yuen2017 G

DCLK3

AU4473301

chr3:
36844096-36844096

A

T

intergenic

De novo

-

-

Yuen2017 G

DCLK3

ASC_CA_71_A1

chr3:
36778737-36778737

T

C

exonic

De novo

nonsynonymous SNV

NM_033403

c.A1414G

p.S472G

8.622

Fu2022 E
Satterstrom2020 E

DCLK3

1-0125-003

chr3:
36834646-36834646

G

A

intergenic

De novo

-

-

Yuen2017 G

DCLK3

2-1378-003

chr3:
36802220-36802220

T

G

intergenic

De novo

-

-

Yuen2017 G

DCLK3

1-0144-005

chr3:
36825202-36825202

T

C

intergenic

De novo

-

-

Yuen2017 G

DCLK3

3-0246-000

chr3:
36822590-36822590

T

C

intergenic

De novo

-

-

Yuen2017 G

DCLK3

A1

chr3:
36757469-36757469

G

A

intronic

De novo

-

-

Wu2018 G

DCLK3

2-1290-004

chr3:
36862890-36862890

T

G

intergenic

De novo

-

-

Yuen2017 G

DCLK3

iHART1896

chr3:
36779567-36779568

TC

T

exonic

Maternal

frameshift deletion

NM_033403

c.583delG

p.E195fs

-

-

Ruzzo2019 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