Variant Results

or

Results for "SOX6"

Variant Events: 45

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

SOX6

5-0125-003

chr11:
16712713-16712713

C

T

intergenic

De novo

-

Yuen2017 G

SOX6

5-0050-003

chr11:
16756111-16756111

T

C

intergenic

De novo

-

Yuen2017 G

SOX6

1-0233-004

chr11:
16732930-16732930

G

C

intergenic

De novo

-

Yuen2017 G

SOX6

7-0174-003

chr11:
16467862-16467862

T

C

intronic

De novo

-

Yuen2017 G

SOX6

5-0015-003

chr11:
16279958-16279958

C

T

intronic

De novo

-

Yuen2017 G

SOX6

1-0976-003

chr11:
16551943-16551943

T

C

intergenic

De novo

-

Yuen2017 G

SOX6

AU0786305

chr11:
16530129-16530129

G

A

intergenic

De novo

-

Yuen2017 G

SOX6

2-1456-004

chr11:
16019506-16019506

A

G

intronic

De novo

-

Yuen2017 G

SOX6

AU3984302

chr11:
16038797-16038797

T

G

intronic

De novo

-

Yuen2017 G

SOX6

11800.p1

chr11:
16117556-16117556

G

C

exonic

De novo

nonsynonymous SNV

NM_001145819
NM_033326

c.C1126G
c.C1087G

p.H376D
p.H363D

4.139

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

SOX6

2-1402-003

chr11:
16543573-16543573

G

A

intergenic

De novo

-

Yuen2017 G

SOX6

AU2333302

chr11:
16240838-16240838

G

A

intronic

De novo

-

Yuen2017 G

SOX6

AU4219302

chr11:
16748356-16748356

G

A

intergenic

De novo

-

Yuen2017 G

SOX6

SSC03297

chr11:
16117556-16117556

G

C

exonic

De novo

nonsynonymous SNV

NM_001145819
NM_033326

c.C1126G
c.C1087G

p.H376D
p.H363D

4.139

-

Fu2022 E

SOX6

2-0214-004

chr11:
16464470-16464470

A

G

intronic

De novo

-

Yuen2017 G

SOX6

1-0206-005

chr11:
16651048-16651048

T

C

intergenic

De novo

-

Yuen2017 G

SOX6

1-0126-003

chr11:
16223216-16223216

G

C

intronic

De novo

-

Yuen2017 G

SOX6

AU3451301

chr11:
16545642-16545642

A

G

intergenic

De novo

-

Yuen2017 G

SOX6

1-0402-004

chr11:
16019558-16019558

A

G

intronic

De novo

-

Yuen2017 G

SOX6

AU3371303

chr11:
16582091-16582091

T

C

intergenic

De novo

-

Yuen2017 G

SOX6

2-0319-003

chr11:
16203832-16203832

A

G

intronic

De novo

-

Yuen2017 G

SOX6

2-1486-003

chr11:
16215979-16215979

A

T

intronic

De novo

-

Yuen2017 G

SOX6

AU4306302

chr11:
16504347-16504353

AAAGAAG

AAAG

intergenic

De novo

-

Yuen2017 G

SOX6

2-0295-003

chr11:
16559607-16559607

T

A

intergenic

De novo

-

Yuen2017 G

SOX6

2-0149-004

chr11:
16151245-16151245

T

C

intronic

De novo

-

Yuen2017 G

SOX6

1-0138-004

chr11:
16246211-16246211

T

A

intronic

De novo

-

Yuen2017 G

SOX6

1-0522-003

chr11:
16101067-16101068

AC

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SOX6

AU4027306

chr11:
16197351-16197352

TC

T

intronic

De novo

-

Yuen2017 G

SOX6

SP0073952

chr11:
15994384-15994384

C

T

exonic

De novo

nonsynonymous SNV

NM_001145811
NM_017508
NM_001145819
NM_033326

c.G2377A
c.G2386A
c.G2497A
c.G2398A

p.E793K
p.E796K
p.E833K
p.E800K

23.9

-

Fu2022 E

SOX6

5-0015-004

chr11:
16099535-16099535

A

C

intronic

De novo

-

Yuen2017 G

SOX6

1-0065-005

chr11:
16372224-16372224

T

C

intronic

De novo

-

Yuen2017 G

SOX6

7-0254-004

chr11:
16297419-16297419

A

G

intronic

De novo

-

Yuen2017 G

SOX6

7-0143-003

chr11:
16711204-16711204

A

G

intergenic

De novo

-

Yuen2017 G

SOX6

2-1258-004

chr11:
16087482-16087482

T

G

intronic

De novo

-

Yuen2017 G

SOX6

2-1112-003

chr11:
16543858-16543858

G

T

intergenic

De novo

-

Yuen2017 G

SOX6

2-1348-003

chr11:
16143612-16143612

A

C

intronic

De novo

-

Yuen2017 G

SOX6

AU0146302

chr11:
16539020-16539020

A

G

intergenic

De novo

-

Yuen2017 G

SOX6

AU3190305

chr11:
16558050-16558050

G

A

intergenic

De novo

-

Yuen2017 G

SOX6

2-1292-003

chr11:
16236327-16236327

G

A

intronic

De novo

-

Yuen2017 G

SOX6

1-0338-003

chr11:
16535939-16535939

A

AAT

intergenic

De novo

-

Yuen2017 G

SOX6

2-1252-003

chr11:
16072585-16072585

C

G

intronic

De novo

-

Yuen2017 G

SOX6

5-0133-003

chr11:
16220983-16220983

C

T

intronic

De novo

-

Yuen2017 G

SOX6

3-0432-000

chr11:
16294176-16294176

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SOX6

Mahjani2021:17

chr11:
15994651-15994651

G

T

exonic

nonsynonymous SNV

NM_001145811
NM_017508
NM_001145819
NM_033326

c.C2110A
c.C2119A
c.C2230A
c.C2131A

p.P704T
p.P707T
p.P744T
p.P711T

15.94

-

Mahjani2021 E

SOX6

AU3397302

chr11:
16105079-16105079

G

A

intronic

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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