Variant Results

or

or

Results for "SOX11"

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

SOX11

AU2437302

chr2:
5853857-5853857

A

G

intergenic

De novo

-

-

Yuen2017 G

SOX11

AU3730301

chr2:
6019662-6019662

A

G

intergenic

De novo

-

-

Yuen2017 G

SOX11

1-0508-003

chr2:
5866225-5866225

C

T

intergenic

De novo

-

-

Yuen2017 G

SOX11

SP0018933

chr2:
5833152-5833152

G

C

exonic

De novo

nonsynonymous SNV

NM_003108

c.G299C

p.R100P

22.2

-

Antaki2022 GE
Fu2022 E

SOX11

2-0142-003

chr2:
6033711-6033711

A

C

intergenic

De novo

-

-

Yuen2017 G

SOX11

SP0018803

chr2:
5833029-5833029

G

C

exonic

nonsynonymous SNV

NM_003108

c.G176C

p.W59S

20.6

-

Antaki2022 GE

SOX11

130091

chr2:
5833012-5833012

G

T

exonic

De novo

nonsynonymous SNV

NM_003108

c.G159T

p.M53I

24.9

-

Fu2022 E

SOX11

1-0604-003

chr2:
5861337-5861337

C

T

intergenic

De novo

-

-

Yuen2017 G

SOX11

2-1143-003

chr2:
5833081-5833081

C

G

exonic

De novo

nonsynonymous SNV

NM_003108

c.C228G

p.N76K

23.5

-

Yuen2017 G

SOX11

2-1591-003

chr2:
5893019-5893019

C

T

intergenic

De novo

-

-

Yuen2017 G

SOX11

14153.p1

chr2:
5836731-5836731

G

A

UTR3

De novo

-

-

Turner2016 G

SOX11

14015.p1

chr2:
5930312-5930312

A

G

intergenic

De novo

-

-

Turner2016 G

SOX11

1-0551-003

chr2:
5865608-5865608

C

T

intergenic

De novo

-

-

Yuen2017 G

SOX11

1-0120-003

chr2:
5921220-5921220

G

T

intergenic

De novo

-

-

Yuen2017 G

SOX11

AU1635302

chr2:
5910329-5910329

T

A

intergenic

De novo

-

-

Yuen2017 G

SOX11

3-0428-000

chr2:
5981453-5981453

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SOX11

2-1153-003

chr2:
5895207-5895207

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SOX11

AU057405

chr2:
5936122-5936122

T

A

intergenic

De novo

-

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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