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Results for "DHX38"

Variant Events: 15

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     08C75069chr16:
72131570-72131570
TCintronicDe novo--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DHX38     80001100864chr16:
72139053-72139053
CTintronicDe novo-8.243E-5Satterstrom2020 E
Trost2022 G
DHX38     mAGRE1080chr16:
72141665-72141667
GCTGexonicPaternalframeshift deletionNM_014003c.2932_2933delp.L978fs--Cirnigliaro2023 G
DHX38     SP0140109chr16:
72132926-72132926
CTexonicDe novononsynonymous SNVNM_014003c.C865Tp.R289C13.568.347E-6Fu2022 E
Trost2022 G
Zhou2022 GE
DHX38     mAGRE6075chr16:
72133724-72133724
GTexonicPaternalstopgainNM_014003c.G1054Tp.E352X40.09.156E-6Cirnigliaro2023 G
DHX38     SP0085623chr16:
72137520-72137520
GAexonicDe novononsynonymous SNVNM_014003c.G1657Ap.V553M29.3-Fu2022 E
Trost2022 G
Zhou2022 GE
DHX38     111316chr16:
72137602-72137602
TCexonicnonsynonymous SNVNM_014003c.T1739Cp.I580T23.68.246E-6Woodbury-Smith2022 E
DHX38     SP0137616chr16:
72144986-72144986
GCintronicDe novo--Fu2022 E
Trost2022 G
DHX38     11572.p1chr16:
72148392-72148392
TCintergenicDe novo--Turner2016 G
DHX38     7-0273-003chr16:
72127747-72127747
CTUTR5De novo--Trost2022 G
Trost2022 G
Yuen2017 G
DHX38     iHART1080chr16:
72141665-72141667
GCTGexonicPaternalframeshift deletionNM_014003c.2932_2933delp.L978fs--Ruzzo2019 G
DHX38     36034chr16:
72137738-72137738
CTintronicDe novo--Trost2022 G
DHX38     SP0038806chr16:
72142097-72142097
TTAintronicDe novo--Trost2022 G
DHX38     2-1398-003chr16:
72140354-72140354
TTCintronicDe novo--Trost2022 G
Yuen2017 G
DHX38     14200.p1chr16:
72137738-72137738
CTintronicDe novo--Satterstrom2020 E
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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