Variant Results

or

Results for "SPRED2"

Variant Events: 56

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

SPRED2

2-0223-004

chr2:
65869688-65869688

G

A

intergenic

De novo

-

Yuen2017 G

SPRED2

AU3695303

chr2:
66419292-66419292

G

A

intergenic

De novo

-

Yuen2017 G

SPRED2

2-0215-003

chr2:
66197102-66197104

AAG

A

intergenic

De novo

-

Yuen2017 G

SPRED2

AU1355301

chr2:
66571697-66571697

G

A

intergenic

De novo

-

Yuen2017 G

SPRED2

1-0215-006

chr2:
66255423-66255423

C

T

intergenic

De novo

-

Yuen2017 G

SPRED2

2-0098-003

chr2:
65807011-65807011

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SPRED2

1-0043-004

chr2:
65993340-65993340

T

A

intergenic

De novo

-

Yuen2017 G

SPRED2

1-0248-003

chr2:
66057464-66057464

G

A

intergenic

De novo

-

Yuen2017 G

SPRED2

AU2433302

chr2:
66279068-66279068

G

T

intergenic

De novo

-

Yuen2017 G

SPRED2

AU3881302

chr2:
66410826-66410826

A

G

intergenic

De novo

-

Yuen2017 G

SPRED2

1-0320-004

chr2:
65793081-65793081

C

G

intergenic

De novo

-

Yuen2017 G

SPRED2

1-0394-003

chr2:
66266047-66266047

G

A

intergenic

De novo

-

Yuen2017 G

SPRED2

5-0042-003

chr2:
65994053-65994053

C

A

intergenic

De novo

-

Yuen2017 G

SPRED2

AU1404302

chr2:
66407145-66407145

A

G

intergenic

De novo

-

Yuen2017 G

SPRED2

2-1127-003

chr2:
66041800-66041800

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SPRED2

1-0347-003

chr2:
65834379-65834386

ATGGTAAG

A

intergenic

De novo

-

Yuen2017 G

SPRED2

2-1127-003

chr2:
66374890-66374890

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SPRED2

AU2100302

chr2:
65920914-65920914

T

A

intergenic

De novo

-

Yuen2017 G

SPRED2

1-0563-003

chr2:
65838472-65838472

G

A

intergenic

De novo

-

Yuen2017 G

SPRED2

A26

chr2:
66202665-66202666

TG

T

intergenic

De novo

-

Wu2018 G

SPRED2

1-0570-003

chr2:
66115152-66115154

GAA

GAAA

intergenic

De novo

-

Yuen2017 G

SPRED2

1-0065-005

chr2:
65678689-65678689

T

G

intergenic

De novo

-

Yuen2017 G

SPRED2

2-0142-003

chr2:
66452303-66452303

T

A

intergenic

De novo

-

Yuen2017 G

SPRED2

11780.p1

chr2:
66127761-66127762

CT

TG

intergenic

Maternal

-

Wilfert2021 G

SPRED2

AU3190305

chr2:
66212974-66212974

G

A

intergenic

De novo

-

Yuen2017 G

SPRED2

1-0994-003

chr2:
65713035-65713035

C

T

intergenic

De novo

-

Yuen2017 G

SPRED2

7-0175-003

chr2:
65870615-65870615

T

A

intergenic

De novo

-

Yuen2017 G

SPRED2

AU4463303

chr2:
65879590-65879590

G

A

intergenic

De novo

-

Yuen2017 G

SPRED2

1-0912-003

chr2:
65592880-65592880

T

A

intronic

De novo

-

Yuen2017 G

SPRED2

AU2951303

chr2:
66155875-66155875

C

G

intergenic

De novo

-

Yuen2017 G

SPRED2

1-0756-003

chr2:
65888330-65888330

A

G

intergenic

De novo

-

Yuen2017 G

SPRED2

AU3903301

chr2:
66021325-66021325

C

T

intergenic

De novo

-

Yuen2017 G

SPRED2

AU3839303

chr2:
65694205-65694205

C

T

intergenic

De novo

-

Yuen2017 G

SPRED2

2-0286-003

chr2:
66490116-66490116

G

A

intergenic

De novo

-

Yuen2017 G

SPRED2

2-1382-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

SPRED2

AU2951302

chr2:
66155875-66155875

C

G

intergenic

De novo

-

Yuen2017 G

SPRED2

2-1408-003

chr2:
65733234-65733234

A

AT

intergenic

De novo

-

Yuen2017 G

SPRED2

2-1261-003

chr2:
66032910-66032910

C

CTA

intergenic

De novo

-

Yuen2017 G

SPRED2

AU3053302

chr2:
65765117-65765117

A

G

intergenic

De novo

-

Yuen2017 G

SPRED2

AU4308302

chr2:
65982343-65982343

T

G

intergenic

De novo

-

Yuen2017 G

SPRED2

1-0191-003

chr2:
66212867-66212867

G

A

intergenic

De novo

-

Yuen2017 G

SPRED2

1-0526-003

chr2:
66323078-66323078

C

T

intergenic

De novo

-

Yuen2017 G

SPRED2

AU066818

chr2:
66472230-66472230

C

A

intergenic

De novo

-

Yuen2017 G

SPRED2

AU2793302

chr2:
66537492-66537492

G

A

intergenic

De novo

-

Yuen2017 G

SPRED2

09C99529

chr2:
65561787-65561787

G

A

exonic

De novo

stopgain

NM_001128210
NM_181784

c.C316T
c.C325T

p.R106X
p.R109X

26.5

2.471E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

SPRED2

12498.p1

chr2:
65870437-65870437

G

T

intergenic

De novo

-

Turner2016 G

SPRED2

12568.p1

chr2:
66072939-66072939

G

A

intergenic

De novo

-

Turner2016 G

SPRED2

1-0467-005

chr2:
65820620-65820620

C

A

intergenic

De novo

-

Yuen2017 G

SPRED2

13515.p1

chr2:
65775493-65775493

A

G

intergenic

De novo

-

Turner2016 G

SPRED2

12498.p1

chr2:
65858858-65858858

C

G

intergenic

De novo

-

Turner2016 G

SPRED2

12493.p1

chr2:
66320072-66320072

A

G

intergenic

De novo

-

Turner2016 G

SPRED2

AU051504

chr2:
66271461-66271461

T

C

intergenic

De novo

-

Yuen2017 G

SPRED2

AU031403

chr2:
65827624-65827625

GC

G

intergenic

De novo

-

Yuen2017 G

SPRED2

AU076509

chr2:
65809427-65809427

G

T

intergenic

De novo

-

Yuen2017 G

SPRED2

1-0567-003

chr2:
66198493-66198496

ACCT

A

intergenic

De novo

-

Yuen2017 G

SPRED2

AU024607

chr2:
65989467-65989467

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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