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Results for "SEMA6D"

Variant Events: 24

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
SEMA6D     2-1341-004chr15:
47683666-47683666
ACintronicDe novo--Yuen2017 G
SEMA6D     AU4473301chr15:
47875555-47875555
TAintronicDe novo--Yuen2017 G
SEMA6D     1-0289-004chr15:
47633849-47633849
ATintronicDe novo--Yuen2017 G
SEMA6D     2-1341-003chr15:
47941543-47941543
GCintronicDe novo--Yuen2017 G
SEMA6D     2-1164-003chr15:
47726238-47726238
AGintronicDe novo--Yuen2016 G
Yuen2017 G
SEMA6D     AU2787301chr15:
47636894-47636894
AGintronicDe novo--Yuen2017 G
SEMA6D     2-1105-003chr15:
47859363-47859363
TCintronicDe novo--Yuen2016 G
Yuen2017 G
SEMA6D     AU2381302chr15:
47882723-47882741
TAATAAATAAATAAATAAATAATAAATAAATAAAintronicDe novo--Yuen2017 G
SEMA6D     2-0286-004chr15:
47546359-47546359
AGintronicDe novo--Yuen2017 G
SEMA6D     NDAR_INVNE346GDX_wes1chr15:
48056548-48056548
CTintronicDe novo-1.802E-5Kosmicki2017 E
Satterstrom2020 E
SEMA6D     1-0569-003chr15:
47498449-47498454
GTATATGTATintronicDe novo--Yuen2017 G
SEMA6D     AU3846303chr15:
47753370-47753370
GAintronicDe novo--Yuen2017 G
SEMA6D     1-0699-003chr15:
47988251-47988251
AGintronicDe novo--Yuen2017 G
SEMA6D     7-0222-003chr15:
48089209-48089209
AGintergenicDe novo--Yuen2017 G
SEMA6D     AU1223301chr15:
47684745-47684745
AGintronicDe novo--Yuen2017 G
SEMA6D     5-0138-003chr15:
47695179-47695179
GAintronicDe novo--Yuen2017 G
SEMA6D     1-0874-003chr15:
47965700-47965700
GCintronicDe novo--Yuen2017 G
SEMA6D     2-0202-003chr15:
47859711-47859711
CTintronicDe novo--Yuen2017 G
SEMA6D     A20chr15:
47958436-47958436
GAintronicDe novo--Wu2018 G
SEMA6D     AU3861303chr15:
47553472-47553476
CTATTCTATTATTintronicDe novo--Yuen2017 G
SEMA6D     AU3680302chr15:
47796333-47796333
CTintronicDe novo--Yuen2017 G
SEMA6D     1-0150-003chr15:
47591799-47591799
AGintronicDe novo--Yuen2017 G
SEMA6D     13298.p1chr15:
47655934-47655934
GAintronicDe novo--Turner2016 G
SEMA6D     AU1725306chr15:
47881794-47881794
AGintronicDe 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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