Variant Results

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Results for "DHX38"

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

DHX38

08C75069

chr16:
72131570-72131570

T

C

intronic

De novo

-

-

Fu2022 E
Satterstrom2020 E

DHX38

80001100864

chr16:
72139053-72139053

C

T

intronic

De novo

-

Satterstrom2020 E

DHX38

SP0140109

chr16:
72132926-72132926

C

T

exonic

De novo

nonsynonymous SNV

NM_014003

c.C865T

p.R289C

13.56

Fu2022 E

DHX38

SP0085623

chr16:
72137520-72137520

G

A

exonic

De novo

nonsynonymous SNV

NM_014003

c.G1657A

p.V553M

29.3

-

Fu2022 E

DHX38

111316

chr16:
72137602-72137602

T

C

exonic

nonsynonymous SNV

NM_014003

c.T1739C

p.I580T

23.6

Woodbury-Smith2022 E

DHX38

SP0137616

chr16:
72144986-72144986

G

C

intronic

De novo

-

-

Fu2022 E

DHX38

11572.p1

chr16:
72148392-72148392

T

C

intergenic

De novo

-

-

Turner2016 G

DHX38

7-0273-003

chr16:
72127747-72127747

C

T

UTR5

De novo

-

-

Yuen2017 G

DHX38

iHART1080

chr16:
72141665-72141667

GCT

G

exonic

Paternal

frameshift deletion

NM_014003

c.2932_2933del

p.L978fs

-

-

Ruzzo2019 G

DHX38

2-1398-003

chr16:
72140354-72140354

T

TC

intronic

De novo

-

-

Yuen2017 G

DHX38

14200.p1

chr16:
72137738-72137738

C

T

intronic

De novo

-

-

Satterstrom2020 E

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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