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Results for "DOCK10"
Variant Events: 37
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
DOCK10
13543.p1
chr2:
225817038-225817038
C
T
intronic
De novo
-
-
Turner2016
G
DOCK10
AU1987301
chr2:
225738140-225738140
A
C
intronic
De novo
-
-
Yuen2017
G
DOCK10
1-0158-012
chr2:
225852914-225852914
C
G
intronic
De novo
-
-
Yuen2017
G
DOCK10
13023.p1
chr2:
225820138-225820138
T
C
intronic
De novo
-
-
Turner2016
G
DOCK10
13023.p1
chr2:
225820220-225820220
G
C
intronic
De novo
-
-
Turner2016
G
DOCK10
1-0261-004
chr2:
226088134-226088138
GTCTT
G
intergenic
De novo
-
-
Yuen2017
G
DOCK10
AU025704
chr2:
225861307-225861307
G
A
intronic
De novo
-
-
Yuen2017
G
DOCK10
1-0022-004
chr2:
226184330-226184330
A
G
intergenic
De novo
-
-
Yuen2017
G
DOCK10
2-1306-004
chr2:
225630400-225630400
A
G
UTR3
De novo
-
-
Yuen2017
G
DOCK10
1-0274-004
chr2:
225844332-225844332
C
T
intronic
De novo
-
-
Yuen2017
G
DOCK10
1-0338-003
chr2:
225774528-225774528
G
GTTTTGTTTTTTGTTTTTTGA
intronic
De novo
-
-
Yuen2017
G
DOCK10
1-0531-003
chr2:
226148277-226148277
G
A
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
DOCK10
2-1368-003
chr2:
225983859-225983859
C
T
intergenic
De novo
-
-
Yuen2017
G
DOCK10
7-0256-003
chr2:
225996660-225996660
G
A
intergenic
De novo
-
-
Yuen2017
G
DOCK10
AU3906301
chr2:
226080959-226080959
G
A
intergenic
De novo
-
-
Yuen2017
G
DOCK10
1-0323-003
chr2:
225698675-225698675
A
G
intronic
De novo
-
-
Yuen2017
G
DOCK10
1-0441-003
chr2:
225670816-225670816
T
G
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
DOCK10
1-0022-003
chr2:
226184330-226184330
A
G
intergenic
De novo
-
-
Yuen2016
G
DOCK10
2-1306-003
chr2:
225630400-225630400
A
G
UTR3
De novo
-
-
Yuen2017
G
DOCK10
AU056604
chr2:
225779701-225779701
A
G
intronic
De novo
-
-
Yuen2017
G
DOCK10
7-0141-003
chr2:
225796866-225796866
A
G
intronic
De novo
-
-
Yuen2017
G
DOCK10
1-0274-003
chr2:
225844332-225844332
C
T
intronic
De novo
-
-
Yuen2017
G
DOCK10
1-0065-005
chr2:
226109155-226109155
T
TAAAC
intergenic
De novo
-
-
Yuen2017
G
DOCK10
2-0045-003
chr2:
226069324-226069324
G
A
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
DOCK10
AU3857301
chr2:
225638252-225638252
C
A
intronic
De novo
-
-
Yuen2017
G
DOCK10
PN400157
chr2:
225721677-225721677
C
T
exonic
Unknown
nonsynonymous SNV
NM_001290263
NM_014689
c.G1690A
c.G1708A
p.G564R
p.G570R
28.7
0.0073
Leblond2019
E
DOCK10
AU3727303
chr2:
225771449-225771449
G
C
intronic
De novo
-
-
Yuen2017
G
DOCK10
2-1429-003
chr2:
225917272-225917272
T
C
intergenic
De novo
-
-
Yuen2017
G
DOCK10
AU047904
chr2:
226067249-226067249
A
G
intergenic
De novo
-
-
Yuen2017
G
DOCK10
2-0238-003
chr2:
225890318-225890318
T
C
intronic
De novo
-
-
Yuen2017
G
DOCK10
AU073006
chr2:
226187912-226187912
G
A
intergenic
De novo
-
-
Yuen2017
G
DOCK10
1-0253-005
chr2:
225720326-225720326
C
A
intronic
De novo
-
-
Yuen2017
G
DOCK10
1-0898-003
chr2:
225677871-225677871
C
T
intronic
De novo
-
-
Yuen2017
G
DOCK10
AU3786301
chr2:
226169455-226169455
C
T
intergenic
De novo
-
-
Yuen2017
G
DOCK10
1-0935-003
chr2:
225714298-225714298
C
T
exonic
De novo
nonsynonymous SNV
NM_001290263
NM_014689
c.G2143A
c.G2161A
p.G715R
p.G721R
29.2
-
Yuen2017
G
DOCK10
1-0010-003
chr2:
225808835-225808835
T
C
intronic
De novo
-
-
Yuen2017
G
DOCK10
1-0701-003
chr2:
225689557-225689557
G
C
intronic
De 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 notes
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