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Results for "DNAJB9"

Variant Events: 18

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
DNAJB9     AU054303chr7:
108457616-108457616
CTintergenicDe novo--Yuen2017 G
DNAJB9     2-0307-003chr7:
108325678-108325678
AACintergenicDe novo--Yuen2017 G
DNAJB9     12667.p1chr7:
108213622-108213622
TGexonicDe novononsynonymous SNVNM_012328c.T497Gp.F166C18.46-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
DNAJB9     2-1529-003chr7:
108505477-108505477
AGintergenicDe novo--Yuen2017 G
DNAJB9     1-0585-003chr7:
108512530-108512537
CCTTGCTTCCTTintergenicDe novo--Yuen2017 G
DNAJB9     AU3787302chr7:
108509597-108509597
AGintergenicDe novo--Yuen2017 G
DNAJB9     AU3885305chr7:
108332300-108332300
AGintergenicDe novo--Yuen2017 G
DNAJB9     1-0336-003chr7:
108275832-108275832
CCTTCTCCTintergenicDe novo--Yuen2017 G
DNAJB9     7-0024-003chr7:
108475548-108475548
GCintergenicDe novo--Yuen2017 G
DNAJB9     12175.p1chr7:
108320505-108320505
CTintergenicDe novo--Turner2016 G
DNAJB9     1-0546-003chr7:
108434860-108434860
ACintergenicDe novo--Yuen2017 G
DNAJB9     2-1416-004chr7:
108264613-108264613
TTGintergenicDe novo--Yuen2017 G
DNAJB9     2-1182-003chr7:
108437692-108437692
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
DNAJB9     74-0355chr7:
108405315-108405315
CTintergenicDe novo--Michaelson2012 G
DNAJB9     AU2433302chr7:
108456958-108456958
TCintergenicDe novo--Yuen2017 G
DNAJB9     74-0352chr7:
108273387-108273387
TAintergenicDe novo--Michaelson2012 G
DNAJB9     2-1389-003chr7:
108375067-108375067
TAintergenicDe novo--Yuen2016 G
DNAJB9     AU2950302chr7:
108349116-108349119
TTTGTintergenicDe 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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