Variant Results

or

or

Results for "SFRP2"

Variant Events: 28

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

SFRP2

1-0269-005

chr4:
154964235-154964235

C

T

intergenic

De novo

-

-

Yuen2017 G

SFRP2

1-0458-004

chr4:
154702649-154702649

C

T

exonic

De novo

nonsynonymous SNV

NM_003013

c.G842A

p.R281K

9.962

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

SFRP2

1-0052-003

chr4:
154914318-154914318

T

C

intergenic

De novo

-

-

Yuen2017 G

SFRP2

AU2248301

chr4:
154822453-154822453

G

A

intergenic

De novo

-

-

Yuen2017 G

SFRP2

AU058105

chr4:
154724284-154724284

A

G

intergenic

De novo

-

-

Yuen2017 G

SFRP2

1-0708-003

chr4:
154996344-154996344

T

C

intergenic

De novo

-

-

Yuen2017 G

SFRP2

2-0198-003

chr4:
154838876-154838876

G

A

intergenic

De novo

-

-

Yuen2017 G

SFRP2

2-1561-003

chr4:
155006368-155006368

G

A

intergenic

De novo

-

-

Yuen2017 G

SFRP2

1-1129-003

chr4:
154708958-154708958

C

T

intronic

De novo

-

-

Trost2022 G

SFRP2

3-0228-000

chr4:
155152198-155152198

T

TAA

intergenic

De novo

-

-

Trost2022 G

SFRP2

2-0198-005

chr4:
154914717-154914717

C

A

intergenic

De novo

-

-

Yuen2017 G

SFRP2

AU026412

chr4:
154997685-154997685

G

A

intergenic

De novo

-

-

Yuen2017 G

SFRP2

1-0054-003

chr4:
154823839-154823839

A

T

intergenic

De novo

-

-

Yuen2017 G

SFRP2

11252.p1

chr4:
154707900-154707900

C

T

intronic

De novo

-

-

Turner2016 G

SFRP2

AU2129303

chr4:
154917180-154917180

T

A

intergenic

De novo

-

-

Yuen2017 G

SFRP2

5-0111-003

chr4:
154879528-154879528

C

A

intergenic

De novo

-

-

Yuen2017 G

SFRP2

AU4485302

chr4:
154717747-154717747

G

A

intergenic

De novo

-

-

Yuen2017 G

SFRP2

1-0144-004

chr4:
155072927-155072927

T

C

intergenic

De novo

-

-

Yuen2017 G

SFRP2

7-0191-003

chr4:
154864838-154864840

CTT

C

intergenic

De novo

-

-

Yuen2017 G

SFRP2

AU024104

chr4:
155153081-155153086

ATGATT

ATGATTGATT

intergenic

De novo

-

-

Yuen2017 G

SFRP2

AU3398301

chr4:
154728303-154728303

G

A

intergenic

De novo

-

-

Yuen2017 G

SFRP2

AU4410302

chr4:
154928985-154928985

T

C

intergenic

De novo

-

-

Yuen2017 G

SFRP2

2-1277-004

chr4:
154870051-154870051

T

C

intergenic

De novo

-

-

Yuen2017 G

SFRP2

1-0339-004

chr4:
154762354-154762354

A

T

intergenic

De novo

-

-

Yuen2017 G

SFRP2

1-0405-003

chr4:
154991004-154991004

C

A

intergenic

De novo

-

-

Yuen2017 G

SFRP2

SP0072844

chr4:
154702603-154702603

C

T

exonic

synonymous SNV

NM_003013

c.G888A

p.X296X

-

-

Zhou2022 GE

SFRP2

1-0139-005

chr4:
154803754-154803754

T

C

intergenic

De novo

-

-

Yuen2017 G

SFRP2

2-0198-004

chr4:
154914717-154914717

C

A

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
	More