Variant Results

or

Results for "DDX50"

Variant Events: 41

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

DDX50

2-1350-003

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

10-0005-003

chr10:
70685887-70685892

ACATGA

TGGCGC

intronic

De novo

-

Trost2022 G

DDX50

SP0049224

chr10:
70696596-70696597

CA

C

intronic

De novo

-

Trost2022 G

DDX50

2-1398-003

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

1-0567-004

chr10:
70685864-70685866

TTA

GCG

intronic

De novo

-

Trost2022 G

DDX50

10-0005-003

chr10:
70685882-70685884

TAT

CGA

intronic

De novo

-

Trost2022 G

DDX50

1-0200-004

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

1-0595-005

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

1-0197-003

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

2-1261-004

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

2-0149-005

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

1-0458-003

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

5-0055-003

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

2-0149-004

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

2-1416-004

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

P1229

chr10:
70694112-70694112

C

T

exonic

De novo

nonsynonymous SNV

NM_024045

c.C1397T

p.P466L

31.0

-

Hashimoto2016 E

DDX50

1-0006-003

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

2-1283-004

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

14251.p1

chr10:
70670829-70670829

G

A

exonic

De novo

nonsynonymous SNV

NM_024045

c.G466A

p.G156R

24.1

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DDX50

1-0126-003

chr10:
70685575-70685575

C

T

intronic

De novo

-

Trost2022 G

DDX50

30079.201

chr10:
70673870-70673870

A

G

exonic

De novo

synonymous SNV

NM_024045

c.A999G

p.V333V

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DDX50

1-0197-004

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

2-0145-004

chr10:
70685575-70685575

C

T

intronic

De novo

-

Trost2022 G

DDX50

1-0382-004

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

2-0244-003

chr10:
70685575-70685575

C

T

intronic

De novo

-

Trost2022 G

DDX50

2-1261-003

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

1-0338-003

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

5-0084-003

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

14251_p1

chr10:
70670829-70670829

G

A

exonic

De novo

nonsynonymous SNV

NM_024045

c.G466A

p.G156R

24.1

-

Fu2022 E

DDX50

1-0567-004

chr10:
70685855-70685855

G

A

intronic

De novo

-

Trost2022 G

DDX50

1-0595-004

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

5-0003-004

chr10:
70685864-70685866

TTA

GCG

intronic

De novo

-

Trost2022 G

DDX50

1-0567-004

chr10:
70685848-70685848

T

G

intronic

De novo

-

Trost2022 G

DDX50

1-0551-004

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

1-0567-004

chr10:
70685851-70685851

C

G

intronic

De novo

-

Trost2022 G

DDX50

SP0117352

chr10:
70693883-70693883

G

T

intronic

De novo

-

Fu2022 E

DDX50

1-0567-004

chr10:
70685841-70685841

A

G

intronic

De novo

-

Trost2022 G

DDX50

1-0126-004

chr10:
70685607-70685607

T

TA

intronic

De novo

-

Yuen2017 G

DDX50

1-0567-004

chr10:
70685845-70685845

G

A

intronic

De novo

-

Trost2022 G

DDX50

3-0134-000

chr10:
70685626-70685628

CAG

TGGGC

intronic

De novo

-

Trost2022 G

DDX50

9-0011-003

chr10:
70685626-70685628

CAG

TGGGC

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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