Variant Results

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Results for "DHX9"

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

DHX9

12773.p1

chr1:
182852665-182852665

G

A

exonic

De novo

nonsynonymous SNV

NM_001357

c.G3155A

p.R1052Q

33.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E

DHX9

AU082104

chr1:
182852662-182852662

C

T

exonic

Unknown

nonsynonymous SNV

NM_001357

c.C3152T

p.T1051I

27.2

-

Stessman2017 T

DHX9

7-0247-003

chr1:
182813207-182813207

C

T

intronic

De novo

-

-

Yuen2017 G

DHX9

AU1459301

chr1:
182822497-182822497

C

T

exonic

De novo

stopgain

NM_001357

c.C421T

p.R141X

21.3

-

Stessman2017 T
Stessman2017 T

DHX9

AU2495301

chr1:
182836532-182836532

A

C

intronic

De novo

-

-

Yuen2017 G

DHX9

2-1188-003

chr1:
182831440-182831440

G

T

intronic

De novo

-

-

Yuen2017 G

DHX9

SSC05600

chr1:
182852665-182852665

G

A

exonic

De novo

nonsynonymous SNV

NM_001357

c.G3155A

p.R1052Q

33.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E

DHX9

109056-200

chr1:
182841496-182841496

C

T

exonic

Unknown

nonsynonymous SNV

NM_001357

c.C1582T

p.R528C

19.48

Stessman2017 T

DHX9

217-14168-2730

chr1:
182823301-182823301

C

T

exonic

Unknown

nonsynonymous SNV

NM_001357

c.C614T

p.P205L

25.6

-

Stessman2017 T

DHX9

M23690

chr1:
182850520-182850520

G

A

exonic

Paternal

nonsynonymous SNV

NM_001357

c.G2746A

p.V916I

31.0

-

Guo2018 T
Wang2016 T

DHX9

2-0002-005

chr1:
182853904-182853904

T

C

exonic

De novo

synonymous SNV

NM_001357

c.T3417C

p.S1139S

-

-

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
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