Variant Results

or

Results for "SORCS1"

Variant Events: 117

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

SORCS1

7-0183-003

chr10:
109021945-109021945

A

C

intergenic

De novo

-

Yuen2017 G

SORCS1

7-0255-003

chr10:
108800886-108800886

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

AU3702307

chr10:
109581427-109581427

T

C

intergenic

De novo

-

Yuen2017 G

SORCS1

SSC02254

chr10:
108447964-108447964

C

T

exonic

De novo

nonsynonymous SNV

NM_001013031
NM_001206569
NM_001206570
NM_001206571
NM_001206572
NM_052918

c.G1546A
c.G1546A
c.G1546A
c.G1546A
c.G1546A
c.G1546A

p.V516M
p.V516M
p.V516M
p.V516M
p.V516M
p.V516M

18.62

1.656E-5

Fu2022 E
Trost2022 G

SORCS1

AU1933302

chr10:
108406337-108406337

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

5-0114-003

chr10:
108526288-108526288

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

GEA362

chr10:
108339000-108339000

C

T

exonic

De novo

synonymous SNV

NM_001013031
NM_001206569
NM_001206572

c.G3381A
c.G3381A
c.G3381A

p.P1127P
p.P1127P
p.P1127P

7.831

2.472E-5

Fu2022 E

SORCS1

1-0533-003

chr10:
109451298-109451303

CTTATT

C

intergenic

De novo

-

Yuen2017 G

SORCS1

AU4093302

chr10:
109295321-109295321

T

C

intergenic

De novo

-

Yuen2017 G

SORCS1

SSC10801

chr10:
108389096-108389096

C

T

exonic

De novo

synonymous SNV

NM_001013031
NM_001206569
NM_001206570
NM_001206571
NM_001206572
NM_052918

c.G2526A
c.G2526A
c.G2526A
c.G2526A
c.G2526A
c.G2526A

p.A842A
p.A842A
p.A842A
p.A842A
p.A842A
p.A842A

-

4.973E-5

Fu2022 E
Lim2017 E
Trost2022 G

SORCS1

1-0368-004

chr10:
108824152-108824152

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

1-0597-003

chr10:
108570757-108570757

G

A

intronic

De novo

-

Yuen2017 G

SORCS1

AU066404

chr10:
109086437-109086437

C

G

intergenic

De novo

-

Yuen2017 G

SORCS1

1-0196-005

chr10:
108782275-108782275

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

2-1526-003

chr10:
108892774-108892774

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

7-0143-003

chr10:
109023165-109023165

C

T

intergenic

De novo

-

Yuen2017 G

SORCS1

2-1066-004

chr10:
109597132-109597132

A

ATTTAT

intergenic

De novo

-

Yuen2017 G

SORCS1

AU2293302

chr10:
109067244-109067244

A

G

intergenic

De novo

-

Yuen2017 G

SORCS1

AU005214

chr10:
108586570-108586570

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

AU076508

chr10:
109430238-109430238

G

A

intergenic

De novo

-

Yuen2017 G

SORCS1

AU065304

chr10:
109532522-109532522

C

T

intergenic

De novo

-

Yuen2017 G

SORCS1

2-1721-003

chr10:
109574427-109574427

T

A

intergenic

De novo

-

Yuen2017 G

SORCS1

MSSNG00376-003

chr10:
108454365-108454365

T

C

intronic

De novo

-

Trost2022 G

SORCS1

2-1281-003

chr10:
108815533-108815533

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

7-0429-003

chr10:
108455969-108455969

A

C

intronic

De novo

-

Trost2022 G

SORCS1

SP0228512

chr10:
108438997-108438997

C

G

intronic

De novo

-

Trost2022 G

SORCS1

3-0708-000

chr10:
108449162-108449163

AC

TT

intronic

De novo

-

Trost2022 G

SORCS1

MSSNG00423-003

chr10:
108387281-108387281

A

T

intronic

De novo

-

Trost2022 G

SORCS1

2-0256-004

chr10:
109615500-109615500

C

T

intergenic

De novo

-

Yuen2017 G

SORCS1

AU4186302

chr10:
108588647-108588647

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

5-0068-003

chr10:
108406225-108406225

G

A

intronic

De novo

-

Trost2022 G

SORCS1

7-0277-003

chr10:
108344340-108344340

G

A

intronic

De novo

-

Trost2022 G

SORCS1

1-1066-003

chr10:
108344826-108344826

A

G

intronic

De novo

-

Trost2022 G

SORCS1

MT_160.4

chr10:
108525621-108525621

T

G

intronic

De novo

-

Trost2022 G

SORCS1

MSSNG00038-004

chr10:
108534703-108534703

C

T

intronic

De novo

-

Trost2022 G

SORCS1

7-0286-003A

chr10:
108508001-108508001

G

A

intronic

De novo

-

Trost2022 G

SORCS1

MSSNG00232-003

chr10:
108518954-108518954

G

A

intronic

De novo

-

Trost2022 G

SORCS1

mAGRE5473

chr10:
108377983-108377994

TTCTGAAGTAAA

T

exonic

Paternal

frameshift deletion

NM_001013031
NM_001206569
NM_001206570
NM_001206571
NM_001206572
NM_052918

c.2833_2843del
c.2833_2843del
c.2833_2843del
c.2833_2843del
c.2833_2843del
c.2833_2843del

p.F945fs
p.F945fs
p.F945fs
p.F945fs
p.F945fs
p.F945fs

-

Cirnigliaro2023 G

SORCS1

1030

chr10:
108474914-108474914

T

C

intronic

De novo

-

Trost2022 G

SORCS1

mAGRE5472

chr10:
108377983-108377994

TTCTGAAGTAAA

T

exonic

Paternal

frameshift deletion

NM_001013031
NM_001206569
NM_001206570
NM_001206571
NM_001206572
NM_052918

c.2833_2843del
c.2833_2843del
c.2833_2843del
c.2833_2843del
c.2833_2843del
c.2833_2843del

p.F945fs
p.F945fs
p.F945fs
p.F945fs
p.F945fs
p.F945fs

-

Cirnigliaro2023 G

SORCS1

AU2577301

chr10:
108502348-108502348

G

A

intronic

De novo

-

Trost2022 G

SORCS1

SJD_55.3

chr10:
108469553-108469553

T

C

intronic

De novo

-

Trost2022 G

SORCS1

7-0419-003

chr10:
108469830-108469830

C

T

intronic

De novo

-

Trost2022 G

SORCS1

7-0454-003

chr10:
108631227-108631227

T

C

intronic

De novo

-

Trost2022 G

SORCS1

1-0447-003

chr10:
109074293-109074293

T

C

intergenic

De novo

-

Yuen2017 G

SORCS1

MT_189.3

chr10:
108645846-108645846

C

A

intronic

De novo

-

Trost2022 G

SORCS1

3-0534-000

chr10:
108609656-108609663

GGGGGTCA

G

intronic

De novo

-

Trost2022 G

SORCS1

REACH000001

chr10:
108627992-108627992

T

A

intronic

De novo

-

Trost2022 G

SORCS1

MSSNG00255-005

chr10:
108561495-108561495

A

G

intronic

De novo

-

Trost2022 G

SORCS1

AU2495302

chr10:
109378560-109378560

G

C

intergenic

De novo

-

Yuen2017 G

SORCS1

AU2777302

chr10:
109347891-109347891

C

T

intergenic

De novo

-

Yuen2017 G

SORCS1

1018

chr10:
108562712-108562712

C

T

intronic

De novo

-

Trost2022 G

SORCS1

2-0022-005

chr10:
108897020-108897020

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

2-0215-003

chr10:
108542933-108542935

GCC

TAT

intronic

De novo

-

Trost2022 G

SORCS1

MSSNG00064-003

chr10:
108548997-108548997

C

T

intronic

De novo

-

Trost2022 G

SORCS1

SP0053924

chr10:
108338818-108338818

G

A

UTR3

De novo

-

3.432E-5

Fu2022 E
Trost2022 G

SORCS1

2-1294-004

chr10:
108779091-108779091

G

T

intronic

De novo

-

Trost2022 G

SORCS1

AU2283301

chr10:
108796424-108796424

G

T

intronic

De novo

-

Trost2022 G

SORCS1

2-0014-003

chr10:
108713098-108713099

TC

T

intronic

De novo

-

Trost2022 G

SORCS1

SP0040514

chr10:
108432792-108432792

G

T

intronic

De novo

-

Fu2022 E

SORCS1

AU2764301

chr10:
108717815-108717816

TC

T

intronic

De novo

-

Trost2022 G

SORCS1

5-5011-003

chr10:
108707123-108707123

G

A

intronic

De novo

-

Trost2022 G

SORCS1

4-0062-003

chr10:
108707708-108707710

TAA

AAT

intronic

De novo

-

Trost2022 G

SORCS1

AU058105

chr10:
108748688-108748688

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

1-0731-003

chr10:
108657452-108657456

CCTCT

C

intronic

De novo

-

Trost2022 G

SORCS1

3-0873-000

chr10:
108671364-108671364

T

C

intronic

De novo

-

Trost2022 G

SORCS1

REACH000650

chr10:
108910996-108910996

A

G

intronic

De novo

-

Trost2022 G

SORCS1

7-0369-003

chr10:
108912348-108912348

G

A

intronic

De novo

-

Trost2022 G

SORCS1

AU055603

chr10:
108864337-108864338

GA

G

intronic

De novo

-

Trost2022 G

SORCS1

5-0041-003

chr10:
109116655-109116655

A

G

intergenic

De novo

-

Yuen2017 G

SORCS1

1-1238-003

chr10:
108872280-108872280

A

G

intronic

De novo

-

Trost2022 G

SORCS1

REACH000589

chr10:
108851940-108851940

C

A

intronic

De novo

-

Trost2022 G

SORCS1

1-0288-004

chr10:
108861223-108861223

T

C

intronic

De novo

-

Trost2022 G

SORCS1

1-0436-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SORCS1

3-0339-000

chr10:
108817918-108817918

G

T

intronic

De novo

-

Trost2022 G

SORCS1

2-1186-003

chr10:
109494752-109494769

GCATTATCATTATCATTA

GCATTATCATTA

intergenic

De novo

-

Yuen2017 G

SORCS1

AU3713301

chr10:
108399715-108399715

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

3-0215-000

chr10:
108832185-108832185

T

A

intronic

De novo

-

Trost2022 G

SORCS1

2-0159-003

chr10:
108915082-108915085

TAAG

T

intronic

De novo

-

Trost2022 G

SORCS1

2-1562-004

chr10:
109033939-109033939

G

T

intergenic

De novo

-

Yuen2017 G

SORCS1

2-1272-003

chr10:
108863052-108863052

C

A

intronic

De novo

-

Yuen2016 G

SORCS1

1-0191-004

chr10:
108403311-108403311

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

2-0286-003

chr10:
108536855-108536855

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

2-1408-003

chr10:
108931917-108931917

T

C

intergenic

De novo

-

Yuen2017 G

SORCS1

1-0458-005

chr10:
108692900-108692900

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

2-0135-004

chr10:
109171115-109171115

C

T

intergenic

De novo

-

Yuen2017 G

SORCS1

14151.p1

chr10:
108389096-108389096

C

T

exonic

De novo

synonymous SNV

NM_001013031
NM_001206569
NM_001206570
NM_001206571
NM_001206572
NM_052918

c.G2526A
c.G2526A
c.G2526A
c.G2526A
c.G2526A
c.G2526A

p.A842A
p.A842A
p.A842A
p.A842A
p.A842A
p.A842A

-

4.973E-5

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

SORCS1

5-0074-003

chr10:
109281137-109281137

C

T

intergenic

De novo

-

Yuen2017 G

SORCS1

11000.p1

chr10:
108447964-108447964

C

T

exonic

De novo

nonsynonymous SNV

NM_001013031
NM_001206569
NM_001206570
NM_001206571
NM_001206572
NM_052918

c.G1546A
c.G1546A
c.G1546A
c.G1546A
c.G1546A
c.G1546A

p.V516M
p.V516M
p.V516M
p.V516M
p.V516M
p.V516M

18.62

1.656E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

SORCS1

AU055004

chr10:
108335241-108335241

T

C

UTR3

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

2-1169-003

chr10:
109399125-109399125

T

G

intergenic

De novo

-

Yuen2017 G

SORCS1

AU3888302

chr10:
108552747-108552747

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

AU2485305

chr10:
108749454-108749454

T

G

intronic

De novo

-

Yuen2017 G

SORCS1

2-1605-003

chr10:
109243704-109243704

C

CAT

intergenic

De novo

-

Yuen2017 G

SORCS1

5-0018-003

chr10:
108951572-108951572

A

C

intergenic

De novo

-

Yuen2017 G

SORCS1

1-0158-003

chr10:
108737564-108737564

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

AU3764302

chr10:
109340861-109340861

A

T

intergenic

De novo

-

Yuen2017 G

SORCS1

1-1000-003

chr10:
109224205-109224205

A

G

intergenic

De novo

-

Yuen2017 G

SORCS1

5-0003-004

chr10:
108753908-108753908

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

1-1000-003

chr10:
109224201-109224201

G

A

intergenic

De novo

-

Yuen2017 G

SORCS1

1-0277-003

chr10:
108962434-108962447

GCACACACACACAC

GCACACACACAC

intergenic

De novo

-

Yuen2017 G

SORCS1

1-0435-003

chr10:
109088526-109088526

G

A

intergenic

De novo

-

Yuen2017 G

SORCS1

1-0995-003

chr10:
108513287-108513301

CAGAGAGAGAGAGAG

CAGAGAGAGAGAG

intronic

De novo

-

Yuen2017 G

SORCS1

7-0058-003

chr10:
108342528-108342528

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

7-0100-003

chr10:
108546427-108546427

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

AU3692302

chr10:
109582006-109582006

T

C

intergenic

De novo

-

Yuen2017 G

SORCS1

7-0149-003

chr10:
109597526-109597526

A

T

intergenic

De novo

-

Yuen2017 G

SORCS1

14637.p1

chr10:
108649594-108649594

G

C

intronic

De novo

-

Turner2016 G

SORCS1

13515.p1

chr10:
109132935-109132935

A

G

intergenic

De novo

-

Turner2016 G

SORCS1

AU3808304

chr10:
109440375-109440375

C

T

intergenic

De novo

-

Yuen2017 G

SORCS1

1-0656-003

chr10:
108546842-108546842

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORCS1

AU2000305

chr10:
109000769-109000772

TAAA

TAA

intergenic

De novo

-

Yuen2017 G

SORCS1

11417.p1

chr10:
108924003-108924003

G

A

exonic

synonymous SNV

NM_001013031
NM_001206569
NM_001206570
NM_001206571
NM_001206572
NM_052918

c.C282T
c.C282T
c.C282T
c.C282T
c.C282T
c.C282T

p.G94G
p.G94G
p.G94G
p.G94G
p.G94G
p.G94G

-

Zhou2022 GE

SORCS1

2-1066-003

chr10:
109597132-109597132

A

ATTTAT

intergenic

De novo

-

Yuen2017 G

SORCS1

2-1328-003

chr10:
109293798-109293799

CT

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SORCS1

1-0559-005

chr10:
108978006-108978006

T

C

intergenic

De novo

-

Yuen2017 G

SORCS1

2-1215-003

chr10:
109255019-109255019

C

T

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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