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Results for "SEMA3E"

Variant Events: 31

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
SEMA3E     AU060403chr7:
83014437-83014437
TGintronicDe novo--Yuen2017 G
SEMA3E     2-0219-004chr7:
82995196-82995196
AGUTR3De novo--Yuen2017 G
SEMA3E     2-1382-003chr7:
83473535-83473535
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
SEMA3E     AU003406chr7:
83086945-83086945
CTintronicDe novo--Yuen2017 G
SEMA3E     2-0007-003chr7:
83574057-83574057
CTintergenicDe novo--Yuen2017 G
SEMA3E     1-0218-003chr7:
83128577-83128577
GAintronicDe novo--Yuen2017 G
SEMA3E     1-0186-004chr7:
83500604-83500604
TCintergenicDe novo--Yuen2017 G
SEMA3E     3-0482-000chr7:
82995520-82995520
TCUTR3De novo--Yuen2017 G
SEMA3E     5-0015-004chr7:
83426159-83426159
TTAintergenicDe novo--Yuen2017 G
SEMA3E     2-0011-004chr7:
83152955-83152955
CTintronicDe novo--Yuen2017 G
SEMA3E     5-0017-004chr7:
83310248-83310248
GCintergenicDe novo--Yuen2017 G
SEMA3E     AU1894304chr7:
83140423-83140423
ATintronicDe novo--Yuen2017 G
SEMA3E     1-0567-003chr7:
83500604-83500604
TCintergenicDe novo--Yuen2017 G
SEMA3E     1-0969-003chr7:
83261314-83261314
ATintronicDe novo--Yuen2017 G
SEMA3E     DEASD_1003_001chr7:
83032035-83032035
GAexonicDe novosynonymous SNVNM_001178129
NM_012431
c.C876T
c.C1056T
p.A292A
p.A352A
--Satterstrom2020 E
SEMA3E     1-0453-003chr7:
83183742-83183742
GAintronicDe novo--Yuen2017 G
SEMA3E     5-0014-003chr7:
83269081-83269081
CAintronicDe novo--Yuen2017 G
SEMA3E     2-0132-004chr7:
83300745-83300745
CGintergenicDe novo--Yuen2017 G
SEMA3E     2-1245-003chr7:
83097682-83097682
AGintronicDe novo--Yuen2017 G
SEMA3E     14139.p1chr7:
83079395-83079395
CGintronicUnknown--Werling2018 G
SEMA3E     12793.p1chr7:
83083539-83083539
ATintronicDe novo--Turner2016 G
SEMA3E     AU071804chr7:
83554810-83554826
GGTGTGTGTGTGTGTGTGGTGTGTGTGTGTGTintergenicDe novo--Yuen2017 G
SEMA3E     2-1620-004chr7:
83535279-83535279
TTTAintergenicDe novo--Yuen2017 G
SEMA3E     12680.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
SEMA3E     1-0414-005chr7:
83500604-83500604
TCintergenicDe novo--Yuen2017 G
SEMA3E     12793.p1chr7:
83083561-83083561
AGintronicDe novo--Turner2016 G
SEMA3E     2-1444-003chr7:
83369946-83369946
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
SEMA3E     13539.p1chr7:
83273453-83273453
AGintronicDe novo--Turner2016 G
SEMA3E     AU4233301chr7:
83095970-83095970
TCintronicDe novo--Yuen2017 G
SEMA3E     2-0033-003chr7:
83266733-83266733
AGintronicDe novo--Yuen2017 G
SEMA3E     7-0008-003chr7:
83549138-83549138
TCintergenicDe 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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