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Results for "SOX11"

Variant Events: 15

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
SOX11     AU2437302chr2:
5853857-5853857
AGintergenicDe novo--Yuen2017 G
SOX11     AU3730301chr2:
6019662-6019662
AGintergenicDe novo--Yuen2017 G
SOX11     1-0508-003chr2:
5866225-5866225
CTintergenicDe novo--Yuen2017 G
SOX11     2-0142-003chr2:
6033711-6033711
ACintergenicDe novo--Yuen2017 G
SOX11     1-0604-003chr2:
5861337-5861337
CTintergenicDe novo--Yuen2017 G
SOX11     2-1143-003chr2:
5833081-5833081
CGexonicDe novononsynonymous SNVNM_003108c.C228Gp.N76K23.5-Yuen2017 G
SOX11     2-1591-003chr2:
5893019-5893019
CTintergenicDe novo--Yuen2017 G
SOX11     14153.p1chr2:
5836731-5836731
GAUTR3De novo--Turner2016 G
SOX11     14015.p1chr2:
5930312-5930312
AGintergenicDe novo--Turner2016 G
SOX11     1-0551-003chr2:
5865608-5865608
CTintergenicDe novo--Yuen2017 G
SOX11     1-0120-003chr2:
5921220-5921220
GTintergenicDe novo--Yuen2017 G
SOX11     AU1635302chr2:
5910329-5910329
TAintergenicDe novo--Yuen2017 G
SOX11     3-0428-000chr2:
5981453-5981453
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
SOX11     2-1153-003chr2:
5895207-5895207
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SOX11     AU057405chr2:
5936122-5936122
TAintergenicDe 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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