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Results for "SYK"

Variant Events: 23

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
SYK     2-1292-004chr9:
93794149-93794149
CTintergenicDe novo--Yuen2017 G
SYK     2-1416-004chr9:
93676758-93676758
TCintergenicDe novo--Yuen2017 G
SYK     3-0018-000chr9:
93777868-93777871
CAAACAAintergenicDe novo--Yuen2017 G
SYK     2-1406-003chr9:
93753455-93753455
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
SYK     AU4392302chr9:
93584667-93584667
GTintronicDe novo--Yuen2017 G
SYK     AU3763305chr9:
93739531-93739531
CTintergenicDe novo--Yuen2017 G
SYK     1-0585-003chr9:
93602074-93602074
GAintronicDe novo--Yuen2017 G
SYK     2-1416-003chr9:
93676758-93676758
TCintergenicDe novo--Yuen2017 G
SYK     2-1295-003chr9:
93706456-93706456
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SYK     2-1702-003chr9:
93648812-93648812
CTintronicDe novo--Yuen2017 G
SYK     TAS_F0134Ychr9:
93650822-93650822
CTexonicDe novononsynonymous SNVNM_001135052
NM_001174168
NM_001174167
NM_003177
c.C1679T
c.C1679T
c.C1748T
c.C1748T
p.A560V
p.A560V
p.A583V
p.A583V
10.94-Satterstrom2020 E
SYK     1-0375-003chr9:
93696449-93696449
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
SYK     14326.p1chr9:
93626891-93626891
TCexonicDe novosynonymous SNVNM_001135052
NM_001174167
NM_001174168
NM_003177
c.T738C
c.T738C
c.T738C
c.T738C
p.Y246Y
p.Y246Y
p.Y246Y
p.Y246Y
--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
SYK     1-0104-004chr9:
93572451-93572451
GAintronicDe novo--Yuen2017 G
SYK     AU017703chr9:
93731843-93731843
CAintergenicDe novo--Yuen2017 G
SYK     09C95778chr9:
93637149-93637149
ACintronicDe novo-5.0E-4Kosmicki2017 E
SYK     2-1436-003chr9:
93727184-93727184
GCintergenicDe novo--Yuen2017 G
SYK     2-1272-003chr9:
93712195-93712195
AGintergenicDe novo--Yuen2016 G
SYK     TAS_F5031Xchr9:
93657900-93657900
GAUTR3De novo-1.653E-5Satterstrom2020 E
SYK     1-0863-003chr9:
93693379-93693379
GCintergenicDe novo--Yuen2017 G
SYK     2-1529-003chr9:
93730277-93730277
TCintergenicDe novo--Yuen2017 G
SYK     AU4315302chr9:
93595147-93595147
TGintronicDe novo--Yuen2017 G
SYK     2-0198-004chr9:
93653614-93653614
GAintronicDe 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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