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Results for "DOCK9"

Variant Events: 26

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
DOCK9     iHART2820chr13:
99566581-99566581
CTsplicingPaternalsplicing21.8-Ruzzo2019 G
DOCK9     MSSNG00409-003chr13:
99709495-99709495
CAintronicDe novo--Trost2022 G
DOCK9     1-1039-003chr13:
99725577-99725579
CTTCintronicDe novo--Trost2022 G
DOCK9     1-0339-003chr13:
99518653-99518653
GAintronicDe novo--Trost2022 G
Yuen2017 G
DOCK9     2-1195-003chr13:
99722933-99722933
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
DOCK9     3-0703-000chr13:
99590517-99590517
ATintronicDe novo--Trost2022 G
DOCK9     2-1362-003chr13:
99611693-99611693
ACintronicDe novo--Trost2022 G
DOCK9     1-1195-003chr13:
99542024-99542024
AGintronicDe novo--Trost2022 G
DOCK9     mAGRE2820chr13:
99566581-99566581
CTsplicingPaternalsplicing21.8-Cirnigliaro2023 G
DOCK9     7-0470-003chr13:
99576898-99576898
GAintronicDe novo--Trost2022 G
DOCK9     5-0077-004chr13:
99465290-99465290
CCATGAACTintronicDe novo--Trost2022 G
Yuen2017 G
DOCK9     2-1137-003chr13:
99690788-99690788
GAintronicDe novo--Yuen2016 G
Yuen2017 G
DOCK9     5-0077-003chr13:
99465290-99465290
CCATGAACTintronicDe novo--Trost2022 G
Yuen2017 G
DOCK9     SMHC01584s000chr13:
99567629-99567629
GTexonicDe novononsynonymous SNVNM_001130049
NM_001130050
c.C849A
c.C846A
p.N283K
p.N282K
18.74-Yuan2023 E
DOCK9     1-0906-003chr13:
99557003-99557003
TGintronicDe novo--Trost2022 G
Yuen2017 G
DOCK9     A26chr13:
99563562-99563562
GTintronicDe novo--Wu2018 G
DOCK9     2-1188-003chr13:
99513453-99513453
TTAintronicDe novo--Trost2022 G
Yuen2017 G
DOCK9     SP0018933chr13:
99512373-99512373
TAintronicDe novo--Fu2022 E
DOCK9     1-0121-003chr13:
99509247-99509247
CGintronicDe novo--Trost2022 G
Yuen2017 G
DOCK9     SP0133464chr13:
99460011-99460011
TCexonicDe novounknown6.746-Fu2022 E
Trost2022 G
Zhou2022 GE
DOCK9     SP0118627chr13:
99479141-99479141
CAexonicDe novounknown26.4-Fu2022 E
Trost2022 G
Zhou2022 GE
DOCK9     2-1258-004chr13:
99721825-99721825
CTintronicDe novo--Trost2022 G
Yuen2017 G
DOCK9     1014chr13:
99450457-99450457
GAintronicDe novo--Trost2022 G
DOCK9     1-0203-003chr13:
99466569-99466569
TCintronicDe novo--Trost2022 G
Yuen2017 G
DOCK9     2-1292-003chr13:
99611693-99611693
ACintronicDe novo--Trost2022 G
Yuen2017 G
DOCK9     1-0295-003 Complex Event; expand row to view variants  De novo--Trost2022 G
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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