Variant Results

or

or

Results for "SFMBT2"

Variant Events: 29

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

SFMBT2

2-0057-004

chr10:
7307133-7307133

C

T

intronic

De novo

-

-

Yuen2017 G

SFMBT2

2-1567-004

chr10:
7307133-7307133

C

T

intronic

De novo

-

-

Yuen2017 G

SFMBT2

AU058103

chr10:
7230360-7230360

A

G

intronic

De novo

-

-

Yuen2017 G

SFMBT2

2-1456-004

chr10:
7307133-7307133

C

T

intronic

De novo

-

-

Yuen2017 G

SFMBT2

1-0520-003

chr10:
7344405-7344405

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

SFMBT2

AU1933302

chr10:
7475890-7475890

T

A

intergenic

De novo

-

-

Yuen2017 G

SFMBT2

Kim2020:B5

chr10:
7412242-7412242

C

T

splicing

De novo

splicing

15.49

-

Kim2020 E

SFMBT2

2-1128-003

chr10:
7320796-7320796

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

SFMBT2

2-0310-003

chr10:
7307133-7307133

C

T

intronic

De novo

-

-

Yuen2017 G

SFMBT2

1-0206-003

chr10:
7307133-7307133

C

T

intronic

De novo

-

-

Yuen2017 G

SFMBT2

2-1398-004

chr10:
7307133-7307133

C

T

intronic

De novo

-

-

Yuen2017 G

SFMBT2

2-0503-004

chr10:
7307133-7307133

C

T

intronic

De novo

-

-

Yuen2017 G

SFMBT2

3-0456-000B

chr10:
7213014-7213014

G

A

exonic

De novo

nonsynonymous SNV

NM_001018039
NM_001029880

c.C2420T
c.C2420T

p.T807M
p.T807M

10.53

Yuen2017 G

SFMBT2

2-1456-003

chr10:
7386229-7386229

A

G

intronic

De novo

-

-

Yuen2017 G

SFMBT2

AU4103301

chr10:
7411703-7411703

C

T

intronic

De novo

-

-

Yuen2017 G

SFMBT2

2-1428-003

chr10:
7547915-7547915

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SFMBT2

2-0126-004

chr10:
7443372-7443385

GGAGCTGGAGGAGT

G

intronic

De novo

-

-

Yuen2017 G

SFMBT2

5-0021-003

chr10:
7526104-7526110

CAGAGAG

CAGAG

intergenic

De novo

-

-

Yuen2017 G

SFMBT2

AU1725302

chr10:
7322395-7322395

G

A

intronic

De novo

-

-

Yuen2017 G

SFMBT2

3-0456-000

chr10:
7213014-7213014

G

A

exonic

De novo

nonsynonymous SNV

NM_001018039
NM_001029880

c.C2420T
c.C2420T

p.T807M
p.T807M

10.53

Yuen2016 G
Yuen2017 G

SFMBT2

2-1620-004

chr10:
7307133-7307133

C

T

intronic

De novo

-

-

Yuen2017 G

SFMBT2

09C79967

chr10:
7214654-7214654

G

C

intronic

De novo

-

-

Satterstrom2020 E

SFMBT2

7-0148-003

chr10:
7408328-7408328

C

T

intronic

De novo

-

-

Yuen2017 G

SFMBT2

1-0606-003

chr10:
7302957-7302957

G

A

intronic

De novo

-

-

Yuen2017 G

SFMBT2

7-0248-003

chr10:
7391274-7391279

AACACA

AACA

intronic

De novo

-

-

Yuen2017 G

SFMBT2

AU3506303

chr10:
7218719-7218730

AAAAGAAAGAAA

AAAAGAAA

intronic

De novo

-

-

Yuen2017 G

SFMBT2

AU1355301

chr10:
7560338-7560338

C

T

intergenic

De novo

-

-

Yuen2017 G

SFMBT2

2-1168-003

chr10:
7577635-7577635

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SFMBT2

5-0050-003

chr10:
7200954-7200954

T

A

UTR3

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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