Variant Results

or

Results for "DHX57"

Variant Events: 22

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

DHX57

2-1441-003

chr2:
39062344-39062344

T

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DHX57

2-1243-003

chr2:
39077590-39077590

G

C

intronic

De novo

-

Trost2022 G

DHX57

1-1122-003

chr2:
39066529-39066529

C

T

intronic

De novo

-

Trost2022 G

DHX57

EL004_201

chr2:
39103043-39103043

C

T

upstream

De novo

-

Fu2022 E

DHX57

SP0206856

chr2:
39081325-39081325

C

A

intronic

De novo

-

Trost2022 G

DHX57

10C110254

chr2:
39053113-39053113

G

A

exonic

De novo

stopgain

NM_198963

c.C2890T

p.R964X

37.0

1.648E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DHX57

1-0133-003

chr2:
39079723-39079723

G

A

intronic

De novo

-

Trost2022 G

DHX57

NDAR_INVWJ720YXQ_wes1

chr2:
39065068-39065068

T

C

exonic

De novo

nonsynonymous SNV

NM_198963

c.A2447G

p.K816R

19.95

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DHX57

3-0029-000

chr2:
39063266-39063266

C

T

intronic

De novo

-

Trost2022 G

DHX57

1-1012-003A

chr2:
39054240-39054240

T

G

intronic

De novo

-

Trost2022 G

DHX57

SP0101379

chr2:
39088674-39088674

C

T

exonic

De novo

nonsynonymous SNV

NM_198963

c.G878A

p.S293N

3.392

-

Fu2022 E
Zhou2022 GE

DHX57

SP0060134

chr2:
39040981-39040981

C

A

exonic

De novo

nonsynonymous SNV

NM_198963

c.G3663T

p.L1221F

17.57

-

Fu2022 E
Zhou2022 GE

DHX57

12493.p1

chr2:
39035129-39035129

G

T

intronic

De novo

-

Turner2016 G

DHX57

1-0826-004

chr2:
39090540-39090540

G

A

exonic

De novo

stopgain

NM_198963

c.C346T

p.R116X

37.0

2.0E-4

Trost2022 G
Yuen2017 G
Zhou2022 GE

DHX57

MT_50.3

chr2:
39098154-39098154

C

G

intronic

De novo

-

Trost2022 G

DHX57

AU3846302

chr2:
39099628-39099628

A

G

intronic

De novo

-

Yuen2017 G

DHX57

1-0133-003

chr2:
39086344-39086344

G

T

intronic

De novo

-

Trost2022 G

DHX57

AU2299301

chr2:
39088717-39088717

C

G

exonic

nonsynonymous SNV

NM_198963

c.G835C

p.E279Q

12.34

-

Zhou2022 GE

DHX57

1-0454-003

chr2:
39041140-39041140

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DHX57

mAGRE5872

chr2:
39090540-39090540

G

A

exonic

Maternal

stopgain

NM_198963

c.C346T

p.R116X

37.0

2.0E-4

Cirnigliaro2023 G

DHX57

mAGRE5871

chr2:
39090540-39090540

G

A

exonic

Maternal

stopgain

NM_198963

c.C346T

p.R116X

37.0

2.0E-4

Cirnigliaro2023 G

DHX57

AU072904

chr2:
39080689-39080689

A

G

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
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