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Results for "DOCK1"

Variant Events: 42

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
DOCK1     PN400213chr10:
129242460-129242460
CTexonicUnknownnonsynonymous SNVNM_001290223
NM_001380
c.C5330T
c.C5267T
p.S1777L
p.S1756L
22.50.01Leblond2019 E
DOCK1     PN400518chr10:
129242460-129242460
CTexonicUnknownnonsynonymous SNVNM_001290223
NM_001380
c.C5330T
c.C5267T
p.S1777L
p.S1756L
22.50.01Leblond2019 E
DOCK1     1-0162-004chr10:
129121943-129121943
CTintronicDe novo--Yuen2017 G
DOCK1     AU4250301chr10:
129261083-129261083
CTintergenicDe novo--Yuen2017 G
DOCK1     1-0496-003chr10:
129085131-129085131
TGintronicDe novo--Yuen2017 G
DOCK1     PN400194chr10:
129242460-129242460
CTexonicUnknownnonsynonymous SNVNM_001290223
NM_001380
c.C5330T
c.C5267T
p.S1777L
p.S1756L
22.50.01Leblond2019 E
DOCK1     2-1633-003chr10:
129159648-129159650
GATGATATintronicDe novo--Yuen2017 G
DOCK1     2-1338-003chr10:
129218453-129218453
GAintronicDe novo--Yuen2017 G
DOCK1     AU3911301chr10:
129017121-129017121
GCintronicDe novo--Yuen2017 G
DOCK1     F2613-1chr10:
129224199-129224199
CTexonicDe novononsynonymous SNVNM_001290223
NM_001380
c.C4838T
c.C4775T
p.P1613L
p.P1592L
23.68.28E-6Montenegro2019 E
DOCK1     PN400128chr10:
129242460-129242460
CTexonicUnknownnonsynonymous SNVNM_001290223
NM_001380
c.C5330T
c.C5267T
p.S1777L
p.S1756L
22.50.01Leblond2019 E
DOCK1     PN400332chr10:
129242460-129242460
CTexonicUnknownnonsynonymous SNVNM_001290223
NM_001380
c.C5330T
c.C5267T
p.S1777L
p.S1756L
22.50.01Leblond2019 E
DOCK1     2-1402-003chr10:
128971212-128971212
AGintronicDe novo--Yuen2017 G
DOCK1     2-1335-004chr10:
129331408-129331408
GAintergenicDe novo--Yuen2017 G
DOCK1     7-0197-003chr10:
129261430-129261434
GCCCCGCCCintergenicDe novo--Yuen2017 G
DOCK1     PN400321chr10:
129242460-129242460
CTexonicUnknownnonsynonymous SNVNM_001290223
NM_001380
c.C5330T
c.C5267T
p.S1777L
p.S1756L
22.50.01Leblond2019 E
DOCK1     2-1085-004chr10:
128875912-128875912
AGintronicDe novo--Yuen2017 G
DOCK1     5-0061-003chr10:
129258189-129258189
GAintergenicDe novo--Yuen2017 G
DOCK1     AU079104chr10:
129067675-129067675
AGintronicDe novo--Yuen2017 G
DOCK1     13739.p1chr10:
128776178-128776178
TGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
DOCK1     7-0249-004chr10:
128998711-128998711
ACintronicDe novo--Yuen2017 G
DOCK1     14565.p1chr10:
129242541-129242541
CTexonicDe novononsynonymous SNVNM_001290223
NM_001380
c.C5411T
c.C5348T
p.S1804L
p.S1783L
14.23-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
DOCK1     2-0503-004chr10:
128983367-128983367
CAintronicDe novo--Yuen2017 G
DOCK1     5-0140-003chr10:
128981648-128981648
GAintronicDe novo--Yuen2017 G
DOCK1     PN400517chr10:
129242460-129242460
CTexonicUnknownnonsynonymous SNVNM_001290223
NM_001380
c.C5330T
c.C5267T
p.S1777L
p.S1756L
22.50.01Leblond2019 E
DOCK1     1-0609-003chr10:
129301221-129301221
CTintergenicDe novo--Yuen2017 G
DOCK1     1-0010-003chr10:
129241164-129241164
CTintronicDe novo--Yuen2017 G
DOCK1     AU4376301chr10:
129342848-129342848
AGintergenicDe novo--Yuen2017 G
DOCK1     PN400114chr10:
129242460-129242460
CTexonicUnknownnonsynonymous SNVNM_001290223
NM_001380
c.C5330T
c.C5267T
p.S1777L
p.S1756L
22.50.01Leblond2019 E
DOCK1     AU075703chr10:
129125170-129125170
GCintronicDe novo--Yuen2017 G
DOCK1     3-0482-000chr10:
129272401-129272401
TCintergenicDe novo--Yuen2017 G
DOCK1     PN400385chr10:
129242460-129242460
CTexonicUnknownnonsynonymous SNVNM_001290223
NM_001380
c.C5330T
c.C5267T
p.S1777L
p.S1756L
22.50.01Leblond2019 E
DOCK1     1-0208-003chr10:
129224826-129224826
CTintronicDe novo--Yuen2017 G
DOCK1     2-0012-003chr10:
128607315-128607315
CTintronicDe novo--Yuen2017 G
DOCK1     2-1277-003chr10:
128966235-128966235
TCintronicDe novo--Yuen2017 G
DOCK1     PN400292chr10:
129242460-129242460
CTexonicUnknownnonsynonymous SNVNM_001290223
NM_001380
c.C5330T
c.C5267T
p.S1777L
p.S1756L
22.50.01Leblond2019 E
DOCK1     2-1292-003chr10:
129136026-129136026
AGintronicDe novo--Yuen2017 G
DOCK1     5-0064-003chr10:
128893812-128893814
GCTGintronicDe novo--Yuen2017 G
DOCK1     AU3768302chr10:
129294770-129294770
AGintergenicDe novo--Yuen2017 G
DOCK1     2-0145-004chr10:
129165716-129165718
ACTAintronicDe novo--Yuen2017 G
DOCK1     2-0198-003chr10:
129011530-129011530
AGintronicDe novo--Yuen2017 G
DOCK1     12087.p1chr10:
129182985-129182985
ACintronicMosaic--Dou2017 E
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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