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Results for "DHX57"

Variant Events: 8

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     1-0454-003chr2:
39041140-39041140
CTintronicDe novo--Yuen2017 G
DHX57     2-1441-003chr2:
39062344-39062344
TGintronicDe novo--Yuen2016 G
Yuen2017 G
DHX57     10C110254chr2:
39053113-39053113
GAexonicDe novostopgainNM_198963c.C2890Tp.R964X37.01.648E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
DHX57     NDAR_INVWJ720YXQ_wes1chr2:
39065068-39065068
TCexonicDe novononsynonymous SNVNM_198963c.A2447Gp.K816R19.95-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DHX57     AU072904chr2:
39080689-39080689
AGintronicDe novo--Yuen2017 G
DHX57     12493.p1chr2:
39035129-39035129
GTintronicDe novo--Turner2016 G
DHX57     1-0826-004chr2:
39090540-39090540
GAexonicDe novostopgainNM_198963c.C346Tp.R116X37.02.0E-4Yuen2017 G
DHX57     AU3846302chr2:
39099628-39099628
AGintronicDe 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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