Variant Results

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Results for "DKK3"

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

DKK3

1-0345-003

chr11:
11986190-11986190

G

A

exonic

De novo

nonsynonymous SNV

NM_001018057
NM_013253
NM_015881

c.C874T
c.C874T
c.C874T

p.R292C
p.R292C
p.R292C

18.15

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

DKK3

7-0001-003

chr11:
11995757-11995757

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DKK3

2-0116-004

chr11:
12126655-12126655

G

A

intergenic

De novo

-

-

Yuen2017 G

DKK3

TRE_2629

chr11:
11986114-11986114

A

G

exonic

De novo

nonsynonymous SNV

NM_001018057
NM_013253
NM_015881

c.T950C
c.T950C
c.T950C

p.V317A
p.V317A
p.V317A

24.9

-

Fu2022 E

DKK3

7-0356-003

chr11:
12000611-12000611

T

C

intronic

De novo

-

-

Trost2022 G

DKK3

4-0019-003

chr11:
12006434-12006434

A

G

intronic

De novo

-

-

Trost2022 G

DKK3

AU4392302

chr11:
12043691-12043691

C

T

intergenic

De novo

-

-

Yuen2017 G

DKK3

1-0524-003

chr11:
12112547-12112547

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

DKK3

SP0081029

chr11:
11986116-11986116

C

G

exonic

De novo

nonsynonymous SNV

NM_001018057
NM_013253
NM_015881

c.G948C
c.G948C
c.G948C

p.E316D
p.E316D
p.E316D

17.44

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DKK3

mAGRE5885

chr11:
12023861-12023861

G

A

exonic

Maternal

stopgain

NM_001018057
NM_013253
NM_015881

c.C337T
c.C337T
c.C337T

p.R113X
p.R113X
p.R113X

39.0

Cirnigliaro2023 G

DKK3

mAGRE5672

chr11:
11987477-11987497

CCACGGGCAGGGGTGTGCACA

C

exonic

Maternal

frameshift deletion

NM_001018057
NM_013253
NM_015881

c.689_708del
c.689_708del
c.689_708del

p.V230fs
p.V230fs
p.V230fs

-

-

Cirnigliaro2023 G

DKK3

1-1155-003

chr11:
12025055-12025055

A

G

intronic

De novo

-

-

Trost2022 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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