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Results for "SEMA3A"

Variant Events: 18

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
SEMA3A     2-1626-003chr7:
83754862-83754862
TCintronicDe novo--Yuen2017 G
SEMA3A     AU021204chr7:
83837697-83837697
GAintergenicDe novo--Yuen2017 G
SEMA3A     AU4159302chr7:
83869936-83869936
GTintergenicDe novo--Yuen2017 G
SEMA3A     1-0556-003chr7:
83890509-83890509
GTintergenicDe novo--Yuen2017 G
SEMA3A     2-1346-003chr7:
83746107-83746107
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SEMA3A     1-0296-003chr7:
83612813-83612813
CTintronicDe novo--Yuen2017 G
SEMA3A     A3chr7:
83937106-83937106
TAintergenicDe novo--Wu2018 G
SEMA3A     PN400281chr7:
83764184-83764184
GAexonicUnknownnonsynonymous SNVNM_006080c.C196Tp.R66W21.05.0E-4Leblond2019 E
SEMA3A     2-1166-003chr7:
84015171-84015171
TCintergenicDe novo--Yuen2017 G
SEMA3A     AU2787302chr7:
83991257-83991257
TGintergenicDe novo--Yuen2017 G
SEMA3A     AU058104chr7:
83688299-83688299
TGintronicDe novo--Yuen2017 G
SEMA3A     11089.p1chr7:
83760511-83760511
TCintronicDe novo--Turner2016 G
SEMA3A     1-0044-003chr7:
83884350-83884350
GAintergenicDe novo--Yuen2017 G
SEMA3A     2-1509-003chr7:
83666640-83666660
TTTGTTGTTGTTGTTGTTGTTTTTGTTGTTGTTGTTGTTintronicDe novo--Yuen2017 G
SEMA3A     AU071203chr7:
83777210-83777210
CTintronicDe novo--Yuen2017 G
SEMA3A     AU4099301chr7:
84030510-84030510
ACintergenicDe novo--Yuen2017 G
SEMA3A     1-0518-003chr7:
84103140-84103140
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
SEMA3A     AU3125301chr7:
83800780-83800780
AATTTTTGintronicDe 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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