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Results for "DOCK5"

Variant Events: 9

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
DOCK5     1-0380-003chr8:
25108866-25108866
CCACAintronicDe novo--Yuen2017 G
DOCK5     12102.p1chr8:
25199347-25199348
TGTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
DOCK5     14613.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_024940c.4707dupTp.A1569fs-1.188E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
DOCK5     2-0012-003chr8:
25216673-25216674
TCTintronicDe novo--Yuen2017 G
DOCK5     2-1627-003chr8:
25137376-25137376
AGintronicDe novo--Yuen2017 G
DOCK5     A2chr8:
25046013-25046013
TCintronicDe novo--Wu2018 G
DOCK5     DEASD_0016_001chr8:
25258469-25258469
CTexonicDe novononsynonymous SNVNM_024940c.C4813Tp.R1605C24.01.648E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DOCK5     1-0590-003chr8:
25097875-25097875
TCintronicDe novo--Yuen2017 G
DOCK5     AU2437302chr8:
25238038-25238038
TGintronicDe 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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