Variant Results

or

Results for "DDX58"

Variant Events: 20

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

DDX58

2-1362-004

chr9:
32463865-32463865

A

AAT

intronic

De novo

-

Trost2022 G
Yuen2017 G

DDX58

Lim2017:31721

chr9:
32493940-32493940

C

T

exonic

De novo

nonsynonymous SNV

NM_014314

c.G242A

p.G81D

16.03

-

Lim2017 E

DDX58

1-0352-005

chr9:
32481835-32481835

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DDX58

14127.p1

chr9:
32466447-32466447

A

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

DDX58

11922.p1

chr9:
32493940-32493940

C

T

exonic

De novo

nonsynonymous SNV

NM_014314

c.G242A

p.G81D

16.03

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

DDX58

mAGRE4018

chr9:
32526105-32526105

C

CAGGGTCT

exonic

Maternal

frameshift insertion

NM_014314

c.59_60insAGACCCT

p.L20fs

-

Cirnigliaro2023 G

DDX58

mAGRE4017

chr9:
32526105-32526105

C

CAGGGTCT

exonic

Maternal

frameshift insertion

NM_014314

c.59_60insAGACCCT

p.L20fs

-

Cirnigliaro2023 G

DDX58

mAGRE4281

chr9:
32493867-32493901

TAATCTATACTCCTCCAACTTTTCAATTTTTTTGA

T

exonic

Paternal

frameshift deletion

NM_014314

c.281_314del

p.F94fs

-

8.507E-6

Cirnigliaro2023 G

DDX58

1-0352-003

chr9:
32481835-32481835

G

A

intronic

De novo

-

Yuen2016 G

DDX58

REACH000322

chr9:
32471513-32471513

T

G

intronic

De novo

-

Trost2022 G

DDX58

3-0434-000

chr9:
32460608-32460608

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DDX58

SSC10510

chr9:
32466447-32466447

A

G

intronic

De novo

-

Fu2022 E
Trost2022 G

DDX58

4-0010-003

chr9:
32463872-32463872

T

C

intronic

De novo

-

Trost2022 G

DDX58

2-1066-003

chr9:
32496611-32496611

C

CAT

intronic

De novo

-

Yuen2017 G

DDX58

31721

chr9:
32493940-32493940

C

T

exonic

De novo

nonsynonymous SNV

NM_014314

c.G242A

p.G81D

16.03

-

Fu2022 E
Trost2022 G

DDX58

SP0044098

chr9:
32487893-32487893

G

A

intronic

De novo

-

Fu2022 E

DDX58

5-5111-003

chr9:
32464451-32464451

G

A

intronic

De novo

-

Trost2022 G

DDX58

2-0160-003

chr9:
32463865-32463865

A

AAT

intronic

De novo

-

Trost2022 G

DDX58

2-0160-003

chr9:
32463869-32463869

T

ATC

intronic

De novo

-

Trost2022 G

DDX58

2-0160-003

chr9:
32463855-32463863

AAAGAAAAA

TATATCTCC

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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