Variant Results

or

Results for "DCAKD"

Variant Events: 11

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

DCAKD

MSSNG00358-003

chr17:
43103444-43103444

G

A

intronic

De novo

-

Trost2022 G

DCAKD

SP0067000

chr17:
43111526-43111526

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

DCAKD

111297

chr17:
43102069-43102069

C

A

exonic

nonsynonymous SNV

NM_001128631
NM_001288654
NM_001288655
NM_024819

c.G428T
c.G428T
c.G428T
c.G428T

p.R143L
p.R143L
p.R143L
p.R143L

36.0

8.847E-6

Woodbury-Smith2022 E

DCAKD

MSSNG00343-004

chr17:
43128705-43128705

G

A

intronic

De novo

-

Trost2022 G

DCAKD

10-1129-005

chr17:
43121509-43121509

G

A

intronic

De novo

-

Trost2022 G

DCAKD

1-0054-004

chr17:
43131220-43131220

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DCAKD

3-0086-000

chr17:
43121720-43121720

C

T

intronic

De novo

-

Trost2022 G

DCAKD

4-0062-003

chr17:
43107157-43107158

AG

GA

intronic

De novo

-

Trost2022 G

DCAKD

SP0026651

chr17:
43111404-43111404

C

T

intronic

De novo

15.02

4.732E-5

Trost2022 G

DCAKD

2-0704-003

chr17:
43111636-43111636

G

T

exonic

De novo

synonymous SNV

NM_001128631
NM_001288654
NM_001288655
NM_024819

c.C235A
c.C235A
c.C235A
c.C235A

p.R79R
p.R79R
p.R79R
p.R79R

-

Jiang2013 G
Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

DCAKD

AU3451301

chr17:
43104285-43104285

G

C

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