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Results for "DESI2"

Variant Events: 13

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
DESI2     2-1306-003chr1:
244969864-244969864
AAAGATintergenicDe novo--Yuen2017 G
DESI2     2-0122-003chr1:
244960367-244960367
TCintergenicDe novo--Yuen2017 G
DESI2     1-0454-003chr1:
244908208-244908208
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
DESI2     AU060403chr1:
244964341-244964341
CTintergenicDe novo--Yuen2017 G
DESI2     DEASD_0061_001chr1:
244816617-244816617
TTGexonicDe novoframeshift insertionNM_001297746
NM_016076
c.3dupG
c.3dupG
p.M1fs
p.M1fs
--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
DESI2     AU4426303chr1:
244920310-244920335
AATATATATATACATATATATATATAAATATATATATATACATATATATATATAintergenicDe novo--Yuen2017 G
DESI2     AU3861301chr1:
244986429-244986429
GCintergenicDe novo--Yuen2017 G
DESI2     2-1635-004chr1:
244957596-244957596
CTintergenicDe novo--Yuen2017 G
DESI2     1-0125-003chr1:
244951701-244951701
CGintergenicDe novo--Yuen2017 G
DESI2     1-0556-003chr1:
244880746-244880746
CTintergenicDe novo--Yuen2017 G
DESI2     5-0050-003chr1:
244956383-244956383
GAintergenicDe novo--Yuen2017 G
DESI2     1-0898-003chr1:
244951439-244951439
CTintergenicDe novo--Yuen2017 G
DESI2     1-0385-003chr1:
244876684-244876684
GAintergenicDe 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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