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Results for "DOCK4"

Variant Events: 38

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
DOCK4     AU4079302chr7:
111412599-111412599
CGintronicDe novo--Yuen2017 G
DOCK4     AU1995302chr7:
111566317-111566324
CAATGAATCAATintronicDe novo--Yuen2017 G
DOCK4     09C86232Achr7:
111381201-111381201
TCexonicDe novosynonymous SNVNM_014705c.A4962Gp.V1654V--Lim2017 E
DOCK4     AU1909304chr7:
111367690-111367690
GCUTR3De novo--Yuen2017 G
DOCK4     AU050403chr7:
111403749-111403749
CTintronicDe novo--Yuen2017 G
DOCK4     MT_160chr7:
111428810-111428810
CTintronicMaternal13.761.0E-4Toma2013 E
DOCK4     ASC_CA_59_Achr7:
111423960-111423960
TCexonicDe novosynonymous SNVNM_014705c.A3450Gp.S1150S0.093-Satterstrom2020 E
DOCK4     A13chr7:
111598767-111598767
TGintronicDe novo--Wu2018 G
DOCK4     1-0673-003chr7:
111602399-111602399
ACintronicDe novo--Yuen2017 G
DOCK4     PN400491chr7:
111368481-111368481
GAexonicUnknownnonsynonymous SNVNM_014705c.C5750Tp.P1917L35.00.0036Leblond2019 E
DOCK4     AU4372309chr7:
111435914-111435914
CTintronicDe novo--Yuen2017 G
DOCK4     PN400489chr7:
111584884-111584884
CTexonicUnknownnonsynonymous SNVNM_014705c.G826Ap.V276M26.21.663E-5Leblond2019 E
DOCK4     2-1290-003chr7:
111438539-111438541
ATTAintronicDe novo--Yuen2017 G
DOCK4     7-0143-003chr7:
111728352-111728352
AGintronicDe novo--Yuen2017 G
DOCK4     1-0206-004chr7:
111430019-111430023
AGCTCAintronicDe novo--Yuen2017 G
DOCK4     AU1725302chr7:
111703098-111703098
CTintronicDe novo--Yuen2017 G
DOCK4     1-0440-003chr7:
111577785-111577785
AGintronicDe novo--Yuen2017 G
DOCK4     11099.p1chr7:
111398732-111398732
CTexonicDe novononsynonymous SNVNM_014705c.G4250Ap.R1417H17.14.186E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
DOCK4     AU008505chr7:
111584262-111584262
AGintronicDe novo--Yuen2017 G
DOCK4     AU4246304chr7:
111376917-111376918
ATAintronicDe novo--Yuen2017 G
DOCK4     11030.p1chr7:
111584840-111584840
AGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
DOCK4     AU3761301chr7:
111479604-111479604
GAintronicDe novo--Yuen2017 G
DOCK4     PN400252chr7:
111584884-111584884
CTexonicUnknownnonsynonymous SNVNM_014705c.G826Ap.V276M26.21.663E-5Leblond2019 E
DOCK4     2-1408-003chr7:
111483826-111483826
AGintronicDe novo--Yuen2017 G
DOCK4     1-0401-003chr7:
111403742-111403742
CCCTGintronicDe novo--Yuen2017 G
DOCK4     12574.p1chr7:
111423975-111423975
CAexonicMosaicsynonymous SNVNM_014705c.G3435Tp.R1145R4.722-Dou2017 E
DOCK4     1-0325-003chr7:
111380304-111380304
CTintronicDe novo--Yuen2017 G
DOCK4     1-0395-004chr7:
111370492-111370493
ACAintronicDe novo--Yuen2017 G
DOCK4     2-1633-003chr7:
111718239-111718240
TGTintronicDe novo--Yuen2017 G
DOCK4     AU057503chr7:
111494892-111494892
CAintronicDe novo--Yuen2017 G
DOCK4     AU4032307chr7:
111620463-111620463
AGintronicDe novo--Yuen2017 G
DOCK4     1-0120-003chr7:
111606112-111606112
GCintronicDe novo--Yuen2017 G
DOCK4     1-0566-003chr7:
111547481-111547481
TCintronicDe novo--Yuen2017 G
DOCK4     1-0531-003chr7:
111839716-111839716
CTintronicDe novo--Yuen2016 G
Yuen2017 G
DOCK4     AU3692302chr7:
111660841-111660841
ATintronicDe novo--Yuen2017 G
DOCK4     PN400246chr7:
111368481-111368481
GAexonicUnknownnonsynonymous SNVNM_014705c.C5750Tp.P1917L35.00.0036Leblond2019 E
DOCK4     5-0077-004chr7:
111558501-111558501
GAintronicDe novo--Yuen2017 G
DOCK4     AU002903chr7:
111568013-111568013
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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