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Results for "DHX35"

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
DHX35     TRE_1801chr20:
37643569-37643569
CTexonicDe novononsynonymous SNVNM_001190809
NM_021931
c.C1301T
c.C1394T
p.A434V
p.A465V
34.08.237E-6Fu2022 E
DHX35     TRE_1886chr20:
37650564-37650564
CTexonicDe novostopgainNM_001190809
NM_021931
c.C1486T
c.C1579T
p.Q496X
p.Q527X
41.0-Fu2022 E
DHX35     2-1411-003chr20:
37621286-37621286
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
DHX35     SMHC01717s000chr20:
37632470-37632470
CTexonicDe novostopgainNM_001190809
NM_021931
c.C838T
c.C931T
p.R280X
p.R311X
33.0-Yuan2023 E
DHX35     1-0522-003chr20:
37616155-37616155
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
DHX35     2-1626-003chr20:
37726394-37726394
GAintergenicDe novo--Yuen2017 G
DHX35     SP0004412chr20:
37639107-37639107
ACintronicDe novo--Fu2022 E
DHX35     1-0763-004chr20:
37692674-37692674
CTintergenicDe novo--Yuen2017 G
DHX35     2-1333-003chr20:
37837708-37837708
CTintergenicDe novo--Yuen2017 G
DHX35     AU2410301chr20:
37733333-37733333
GTintergenicDe novo--Yuen2017 G
DHX35     AU005214chr20:
37643611-37643611
ATintronicDe novo--Trost2022 G
Yuen2017 G
DHX35     SP0187402chr20:
37659409-37659409
CTexonicDe novononsynonymous SNVNM_001190809
NM_021931
c.C1853T
c.C1946T
p.P618L
p.P649L
24.94.119E-5Trost2022 G
DHX35     SP0192556chr20:
37652324-37652324
TCintronicDe novo--Trost2022 G
DHX35     1-1105-005chr20:
37645102-37645102
GAintronicDe novo--Trost2022 G
DHX35     SP0169400chr20:
37631450-37631452
CTGCexonicDe novoframeshift deletionNM_001190809
NM_021931
c.699_700del
c.792_793del
p.T233fs
p.T264fs
--Trost2022 G
DHX35     1-0206-004chr20:
37789857-37789857
AGintergenicDe novo--Yuen2017 G
DHX35     1-0206-004chr20:
37741441-37741441
GAintergenicDe novo--Yuen2017 G
DHX35     2-0145-004chr20:
37830527-37830527
GAintergenicDe novo--Yuen2017 G
DHX35     1-0099-003chr20:
37782307-37782307
AGintergenicDe novo--Yuen2017 G
DHX35     1-0567-003chr20:
37775285-37775285
CTintergenicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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