Variant Results

or

Results for "SOX5"

Variant Events: 115

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

SOX5

AU0285-0102

chr12:
23716344-23716344

A

T

intronic

De novo

-

Fu2022 E

SOX5

2-1336-003

chr12:
24567360-24567360

A

AAAAGTTGGTT

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

3B568

chr12:
23793761-23793761

G

A

exonic

De novo

synonymous SNV

NM_001261415
NM_006940
NM_152989
NM_001261414

c.C972T
c.C1002T
c.C963T
c.C963T

p.G324G
p.G334G
p.G321G
p.G321G

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SOX5

1-0339-004

chr12:
24226311-24226311

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

AU4365302

chr12:
23902548-23902548

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

1-0579-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

SOX5

AU0780301

chr12:
24685595-24685595

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

1-0377-003

chr12:
24431164-24431164

T

C

intronic

De novo

-

Yuen2017 G

SOX5

AU4150301

chr12:
24617360-24617360

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

AU3907302

chr12:
24675977-24675977

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

74-0075

chr12:
24573280-24573280

G

A

intronic

De novo

-

Michaelson2012 G

SOX5

2-1366-004

chr12:
23701387-23701387

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

AU3853302

chr12:
24170245-24170245

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

AU2458303

chr12:
24706274-24706274

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

1-0336-003

chr12:
23685371-23685371

A

ACTT

UTR3

De novo

-

Trost2022 G
Yuen2017 G

SOX5

1-0138-003

chr12:
23752526-23752526

C

CCGTTTAAACAAAGTTTAAAATACTATTAAA

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

AU2140306

chr12:
24230198-24230198

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

Wang2023:335

chr12:
23998926-23998926

C

T

exonic

De novo

nonsynonymous SNV

NM_001261415
NM_006940
NM_152989
NM_001261414

c.G442A
c.G472A
c.G433A
c.G433A

p.E148K
p.E158K
p.E145K
p.E145K

36.0

-

Wang2023 E

SOX5

2-1299-003

chr12:
24107637-24107637

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

1-0674-004

chr12:
24162336-24162336

T

C

intronic

De novo

-

Yuen2017 G

SOX5

2-0081-003

chr12:
23701481-23701481

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

1-0142-005

chr12:
24696378-24696378

C

T

intronic

De novo

-

Yuen2017 G

SOX5

AU2123301

chr12:
24284793-24284793

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

AU3125301

chr12:
24049117-24049117

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

AU4234303

chr12:
24308749-24308749

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

1-0203-003

chr12:
24198069-24198069

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

11841-1

chr12:
24103818-24103818

G

A

UTR5

De novo

-

Fu2022 E

SOX5

2-0013-003

chr12:
23864083-23864083

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

AU055004

chr12:
24375965-24375965

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

11508.p1

chr12:
23879549-23879549

C

T

intronic

De novo

-

Werling2018 G

SOX5

AU024105

chr12:
23843234-23843234

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

1-0389-004

chr12:
24349318-24349318

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

SP0138149

chr12:
23696303-23696303

G

C

exonic

De novo

stopgain

NM_178010
NM_001261415
NM_006940
NM_001261414
NM_152989

c.C455G
c.C1583G
c.C1613G
c.C1250G
c.C1574G

p.S152X
p.S528X
p.S538X
p.S417X
p.S525X

40.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SOX5

7-0102-003

chr12:
24481453-24481453

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

SP0033566

chr12:
24102407-24102407

G

A

intronic

De novo

-

Fu2022 E

SOX5

1-0958-003

chr12:
23779339-23779339

C

T

intronic

De novo

-

Trost2022 G

SOX5

AU2387301

chr12:
23783523-23783523

C

T

intronic

De novo

-

Trost2022 G

SOX5

7-0347-003

chr12:
23750090-23750090

A

C

intronic

De novo

-

Trost2022 G

SOX5

1-0956-003

chr12:
23767992-23767992

T

C

intronic

De novo

-

Trost2022 G

SOX5

5-0054-003

chr12:
24255604-24255604

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

AU2310301

chr12:
23718642-23718642

A

C

intronic

De novo

-

Trost2022 G

SOX5

13171.p1

chr12:
24339722-24339722

C

G

intronic

De novo

-

Turner2016 G

SOX5

MT_172.3

chr12:
23892065-23892065

A

G

intronic

De novo

-

Trost2022 G

SOX5

AU2463301

chr12:
23895026-23895026

C

T

intronic

De novo

-

Trost2022 G

SOX5

1-0150-004

chr12:
23880996-23881002

CTGAGTG

TT

intronic

De novo

-

Trost2022 G

SOX5

1-0150-004

chr12:
23881006-23881012

GGACAGG

CT

intronic

De novo

-

Trost2022 G

SOX5

MT_61.3

chr12:
23832244-23832244

G

C

intronic

De novo

-

Trost2022 G

SOX5

MSSNG00341-004

chr12:
23847188-23847188

T

C

intronic

De novo

-

Trost2022 G

SOX5

AU2320301

chr12:
23792777-23792777

A

G

intronic

De novo

-

Trost2022 G

SOX5

MSSNG00088-003

chr12:
23798872-23798872

A

G

intronic

De novo

-

Trost2022 G

SOX5

MT_166.3

chr12:
23965953-23965953

A

G

intronic

De novo

-

Trost2022 G

SOX5

1-0032-003

chr12:
23976659-23976659

T

C

intronic

De novo

-

Trost2022 G

SOX5

4-0073-003

chr12:
23964150-23964151

AG

TT

intronic

De novo

-

Trost2022 G

SOX5

3-0485-000A

chr12:
23964656-23964656

G

C

intronic

De novo

-

Trost2022 G

SOX5

REACH000380

chr12:
23951321-23951321

T

C

intronic

De novo

-

Trost2022 G

SOX5

4-0062-003

chr12:
23964150-23964151

AG

TT

intronic

De novo

-

Trost2022 G

SOX5

2-1398-003

chr12:
24118124-24118124

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

7-0235-003

chr12:
23903935-23903935

T

G

intronic

De novo

-

Trost2022 G

SOX5

4-0004-003

chr12:
23934487-23934487

G

T

intronic

De novo

-

Trost2022 G

SOX5

REACH000065

chr12:
24013930-24013930

T

A

intronic

De novo

-

Trost2022 G

SOX5

mAGRE4291

chr12:
23757468-23757468

C

T

splicing

Maternal

splicing

24.5

4.129E-5

Cirnigliaro2023 G

SOX5

SP0155540

chr12:
24048715-24048715

T

G

intronic

De novo

-

Trost2022 G

SOX5

AU047703

chr12:
23740521-23740521

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

5-5021-003

chr12:
24004050-24004050

C

T

intronic

De novo

-

Trost2022 G

SOX5

MSSNG00414-003

chr12:
24008283-24008283

G

C

intronic

De novo

-

Trost2022 G

SOX5

REACH000639

chr12:
23987091-23987091

C

T

intronic

De novo

-

Trost2022 G

SOX5

MSSNG00212-003

chr12:
23987632-23987632

A

G

intronic

De novo

-

Trost2022 G

SOX5

1027

chr12:
23976669-23976669

G

T

intronic

De novo

-

Trost2022 G

SOX5

7-0133-003

chr12:
23999046-23999046

G

A

exonic

De novo

stopgain

NM_001261415
NM_006940
NM_152989
NM_001261414

c.C322T
c.C352T
c.C313T
c.C313T

p.R108X
p.R118X
p.R105X
p.R105X

36.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

SOX5

3-0428-000

chr12:
23795548-23795548

T

C

intronic

De novo

-

Yuen2016 G

SOX5

MSSNG00196-003

chr12:
23976852-23976852

C

T

intronic

De novo

-

Trost2022 G

SOX5

14-1014

chr12:
24183569-24183569

C

A

intronic

De novo

-

Trost2022 G

SOX5

3-0430-000

chr12:
24061106-24061106

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G

SOX5

MSSNG00214-003

chr12:
24186094-24186099

ACTTAT

A

intronic

De novo

-

Trost2022 G

SOX5

1-1058-004

chr12:
24091578-24091578

C

T

intronic

De novo

-

Trost2022 G

SOX5

AU005213

chr12:
24425135-24425135

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

MSSNG00038-004

chr12:
24122361-24122361

T

C

intronic

De novo

-

Trost2022 G

SOX5

133339

chr12:
23687394-23687394

G

T

exonic

nonsynonymous SNV

NM_178010
NM_001261415
NM_006940
NM_001261414
NM_152989

c.C893A
c.C2021A
c.C2051A
c.C1688A
c.C2012A

p.A298D
p.A674D
p.A684D
p.A563D
p.A671D

22.1

-

Woodbury-Smith2022 E

SOX5

MSSNG00232-003

chr12:
24076522-24076522

A

G

intronic

De novo

-

Trost2022 G

SOX5

SJD_63.3

chr12:
24087007-24087007

C

G

intronic

De novo

-

Trost2022 G

SOX5

MT_151.3

chr12:
24062673-24062673

T

C

intronic

De novo

-

Trost2022 G

SOX5

MSSNG00383-003

chr12:
24065497-24065497

T

C

intronic

De novo

-

Trost2022 G

SOX5

4-0062-003

chr12:
24325852-24325853

TT

AA

intronic

De novo

-

Trost2022 G

SOX5

2-0299-005

chr12:
23711832-23711832

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

1-0354-006

chr12:
24325852-24325853

TT

AA

intronic

De novo

-

Trost2022 G

SOX5

2-1287-003

chr12:
24290781-24290781

C

T

intronic

De novo

-

Trost2022 G

SOX5

AU007503

chr12:
24573280-24573280

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOX5

3-0772-000

chr12:
24306732-24306732

C

T

intronic

De novo

-

Trost2022 G

SOX5

7-0374-003

chr12:
24241606-24241606

T

C

intronic

De novo

-

Trost2022 G

SOX5

7-0286-003A

chr12:
24289596-24289596

G

C

intronic

De novo

-

Trost2022 G

SOX5

1-1223-003

chr12:
24215754-24215754

T

C

intronic

De novo

-

Trost2022 G

SOX5

3-0787-000

chr12:
24237429-24237429

C

T

intronic

De novo

-

Trost2022 G

SOX5

7-0457-003

chr12:
24417941-24417941

G

A

intronic

De novo

-

Trost2022 G

SOX5

7-0235-003

chr12:
24423596-24423596

C

G

intronic

De novo

-

Trost2022 G

SOX5

3-0228-000

chr12:
24399013-24399013

T

C

intronic

De novo

-

Trost2022 G

SOX5

3-0607-001

chr12:
24408356-24408356

T

C

intronic

De novo

-

Trost2022 G

SOX5

10-1155-004

chr12:
24343858-24343858

T

C

intronic

De novo

-

Trost2022 G

SOX5

4-0062-003

chr12:
24374781-24374782

TG

AA

intronic

De novo

-

Trost2022 G

SOX5

5-5123-003

chr12:
24488537-24488537

A

G

intronic

De novo

-

Trost2022 G

SOX5

MSSNG00433-003

chr12:
24494105-24494105

C

T

intronic

De novo

-

Trost2022 G

SOX5

7-0051-003

chr12:
24450378-24450378

C

T

intronic

De novo

-

Trost2022 G

SOX5

MSSNG00372-003

chr12:
24480896-24480896

A

C

intronic

De novo

-

Trost2022 G

SOX5

2-1391-004

chr12:
24442682-24442688

CCCGGCC

GTCTTAA

intronic

De novo

-

Trost2022 G

SOX5

MSSNG00053-003

chr12:
24444141-24444141

C

A

intronic

De novo

-

Trost2022 G

SOX5

MSSNG00412-003

chr12:
24429415-24429415

A

T

intronic

De novo

-

Trost2022 G

SOX5

MSSNG00012-003

chr12:
24434787-24434787

G

A

intronic

De novo

-

Trost2022 G

SOX5

3-0409-000

chr12:
24604205-24604205

C

CAT

intronic

De novo

-

Trost2022 G

SOX5

5-1007-003

chr12:
24653379-24653379

A

G

intronic

De novo

-

Trost2022 G

SOX5

2-1337-003

chr12:
24679312-24679312

G

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SOX5

AM02ZF-03

chr12:
24562023-24562023

T

C

intronic

De novo

-

Trost2022 G

SOX5

MSSNG00204-003

chr12:
24588993-24588993

T

C

intronic

De novo

-

Trost2022 G

SOX5

4-0062-003

chr12:
24514418-24514420

TAT

ATA

intronic

De novo

-

Trost2022 G

SOX5

MT_168.3

chr12:
24549475-24549475

G

C

intronic

De novo

-

Trost2022 G

SOX5

4-0007-003

chr12:
24502072-24502072

C

T

intronic

De novo

-

Trost2022 G

SOX5

1-1212-003

chr12:
24507569-24507569

A

T

intronic

De novo

-

Trost2022 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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