Variant Results

or

Results for "SPP2"

Variant Events: 33

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

SPP2

AU4468301

chr2:
235149575-235149575

C

A

intergenic

De novo

-

Yuen2017 G

SPP2

2-1166-003

chr2:
235038918-235038918

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SPP2

2-0295-004

chr2:
235041476-235041476

A

G

intergenic

De novo

-

Yuen2017 G

SPP2

2-1507-003

chr2:
235143089-235143089

C

T

intergenic

De novo

-

Yuen2017 G

SPP2

3-0018-000

chr2:
235212458-235212458

G

A

intergenic

De novo

-

Yuen2017 G

SPP2

220-9967-201

chr2:
234969089-234969090

CC

C

exonic

Inherited

frameshift deletion

NM_006944

c.411delC

p.S137fs

-

Stessman2017 T

SPP2

AU3761301

chr2:
235254156-235254156

T

C

intergenic

De novo

-

Yuen2017 G

SPP2

2-1594-003

chr2:
235236505-235236506

CA

CAA

intergenic

De novo

-

Yuen2017 G

SPP2

AU3861302

chr2:
235111233-235111233

A

G

intergenic

De novo

-

Yuen2017 G

SPP2

SP0034525

chr2:
234975829-234975829

T

G

intronic

De novo

-

Fu2022 E

SPP2

AU0636303

chr2:
235229104-235229104

A

G

intergenic

De novo

-

Yuen2017 G

SPP2

AU3610302

chr2:
235236650-235236650

C

T

intergenic

De novo

-

Yuen2017 G

SPP2

1-0918-003

chr2:
235182565-235182565

G

T

intergenic

De novo

-

Yuen2017 G

SPP2

AU026412

chr2:
234965737-234965737

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPP2

1-1000-003

chr2:
235004748-235004748

A

G

intergenic

De novo

-

Yuen2017 G

SPP2

5-0087-003

chr2:
235089997-235089997

T

A

intergenic

De novo

-

Yuen2017 G

SPP2

AU050704

chr2:
235222557-235222557

T

C

intergenic

De novo

-

Yuen2017 G

SPP2

12950.p1

chr2:
234978538-234978538

T

A

intronic

Mosaic

-

Dou2017 E

SPP2

5112_201_child

chr2:
234969088-234969089

TC

T

exonic

De novo

frameshift deletion

NM_006944

c.410delC

p.S137fs

-

Neale2012 E
Willsey2013 E

SPP2

1-0320-004

chr2:
235037793-235037793

C

CTTTCTTTCCTTTCTT

intergenic

De novo

-

Yuen2017 G

SPP2

AU030104

chr2:
235131336-235131351

AAAAAAAAAAAAAACA

AA

intergenic

De novo

-

Yuen2017 G

SPP2

1-0441-003

chr2:
235044852-235044852

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SPP2

A18

chr2:
235207973-235207973

G

T

intergenic

De novo

-

Wu2018 G

SPP2

AU003405

chr2:
235093195-235093195

G

C

intergenic

De novo

-

Yuen2017 G

SPP2

AU028305

chr2:
235001862-235001862

G

A

intergenic

De novo

-

Yuen2017 G

SPP2

AU2129301

chr2:
235285553-235285553

G

A

intergenic

De novo

-

Yuen2017 G

SPP2

10C112342

chr2:
234969088-234969089

TC

T

exonic

De novo

frameshift deletion

NM_006944

c.410delC

p.S137fs

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SPP2

2-0289-004

chr2:
235332007-235332007

G

T

intergenic

De novo

-

Yuen2017 G

SPP2

AU2975301

chr2:
235179187-235179187

C

A

intergenic

De novo

-

Yuen2017 G

SPP2

2-0033-003

chr2:
235384446-235384446

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SPP2

AU047704

chr2:
235119187-235119187

G

T

intergenic

De novo

-

Yuen2017 G

SPP2

M30880

chr2:
234959661-234959663

CAG

C

exonic

Paternal

frameshift deletion

NM_006944

c.133_134del

p.S45fs

-

8.25E-6

Guo2018 T

SPP2

2-0319-004

chr2:
235382994-235382995

CT

C

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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