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Results for "FYN"

Variant Events: 19

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
FYN     7-0273-003chr6:
112294544-112294544
CGintergenicDe novo--Yuen2017 G
FYN     7-0256-003chr6:
112164853-112164853
CTintronicDe novo--Yuen2017 G
FYN     1-0494-003chr6:
112338457-112338457
CAintergenicDe novo--Yuen2017 G
FYN     AU4237301chr6:
112101315-112101315
CTintronicDe novo--Yuen2017 G
FYN     AU4028302chr6:
112177589-112177589
AGintronicDe novo--Yuen2017 G
FYN     AU3787303chr6:
112213818-112213818
CTintergenicDe novo--Yuen2017 G
FYN     2-1322-003chr6:
112191395-112191395
GAintronicDe novo--Yuen2017 G
FYN     AU3912303chr6:
112281132-112281132
AGintergenicDe novo--Yuen2017 G
FYN     2-0033-003chr6:
112368519-112368519
GAintergenicDe novo--Yuen2017 G
FYN     SP0006773chr6:
112041093-112041093
GAexonicDe novosynonymous SNVNM_153047
NM_153048
NM_002037
c.C162T
c.C162T
c.C162T
p.H54H
p.H54H
p.H54H
-4.943E-5Feliciano2019 E
FYN     11336.p1chr6:
112015899-112015899
GAexonicMosaicsynonymous SNVNM_153047
NM_153048
NM_002037
c.C1042T
c.C886T
c.C1051T
p.L348L
p.L296L
p.L351L
--Dou2017 E
Krupp2017 E
FYN     AU1668302chr6:
112106759-112106759
TAintronicDe novo--Yuen2017 G
FYN     1-0494-003Achr6:
112338457-112338457
CAintergenicDe novo--Yuen2017 G
FYN     1-0524-003chr6:
112087803-112087803
CTintronicDe novo--Yuen2016 G
Yuen2017 G
FYN     2-1107-003chr6:
112090616-112090616
CTintronicDe novo--Yuen2017 G
FYN     3-0431-000chr6:
112303115-112303115
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
FYN     11089.p1chr6:
112216221-112216221
CTintergenicDe novo--Turner2016 G
FYN     5-0125-003chr6:
112285536-112285536
AGintergenicDe novo--Yuen2017 G
FYN     11296.p1chr6:
112015801-112015801
TCintronicDe novo--Iossifov2014 E
Kosmicki2017 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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