Variant Results

or

Results for "SF3B1"

Variant Events: 15

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

SF3B1

10C105645

chr2:
198265118-198265118

G

C

exonic

De novo

nonsynonymous SNV

NM_012433

c.C2759G

p.A920G

19.44

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SF3B1

1-0347-003

chr2:
198293925-198293925

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SF3B1

14221.p1

chr2:
198274508-198274508

G

T

exonic

Unknown, De novo

nonsynonymous SNV

NM_012433

c.C890A

p.P297H

28.1

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Zhou2022 GE

SF3B1

AU3727303

chr2:
198292554-198292554

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SF3B1

Leuven2_84306752

chr2:
198272771-198272771

C

T

exonic

Unknown

nonsynonymous SNV

NM_012433

c.G1190A

p.R397H

36.0

-

Wang2020 T

SF3B1

DEASD_1009_001

chr2:
198257958-198257958

A

G

intronic

De novo

-

1.261E-5

Satterstrom2020 E
Trost2022 G

SF3B1

NDAR_INVDZ305CH0_wes1

chr2:
198274638-198274638

A

G

exonic

Unknown, De novo

nonsynonymous SNV

NM_012433

c.T760C

p.W254R

25.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

SF3B1

NDAR_INVEW902YT9_wes1

chr2:
198281565-198281565

G

A

exonic

Unknown, De novo

nonsynonymous SNV

NM_012433

c.C566T

p.A189V

16.03

1.647E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

SF3B1

AU066104

chr2:
198271787-198271787

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SF3B1

7-0416-003

chr2:
198273258-198273258

G

A

exonic

De novo

stopgain

NM_012433

c.C952T

p.R318X

36.0

-

Trost2022 G
Zhou2022 GE

SF3B1

3-0709-000

chr2:
198274936-198274936

T

G

intronic

De novo

-

Trost2022 G

SF3B1

REACH000597

chr2:
198287136-198287136

G

T

intronic

De novo

-

Trost2022 G

SF3B1

1-0763-004

chr2:
198272616-198272616

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SF3B1

3-0659-000

chr2:
198260491-198260491

T

C

intronic

De novo

-

Trost2022 G

SF3B1

SSC10812

chr2:
198274508-198274508

G

T

exonic

De novo

nonsynonymous SNV

NM_012433

c.C890A

p.P297H

28.1

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 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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