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Results for "SF3B1"

Variant Events: 11

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     10C105645chr2:
198265118-198265118
GCexonicDe novononsynonymous SNVNM_012433c.C2759Gp.A920G19.44-Fu2022 E
Satterstrom2020 E
SF3B1     1-0347-003chr2:
198293925-198293925
GAintronicDe novo--Yuen2017 G
SF3B1     14221.p1chr2:
198274508-198274508
GTexonicUnknown, De novononsynonymous SNVNM_012433c.C890Ap.P297H28.1-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
SF3B1     AU3727303chr2:
198292554-198292554
CAintronicDe novo--Yuen2017 G
SF3B1     Leuven2_84306752chr2:
198272771-198272771
CTexonicUnknownnonsynonymous SNVNM_012433c.G1190Ap.R397H36.0-Wang2020 T
SF3B1     DEASD_1009_001chr2:
198257958-198257958
AGintronicDe novo-1.261E-5Satterstrom2020 E
SF3B1     NDAR_INVDZ305CH0_wes1chr2:
198274638-198274638
AGexonicUnknown, De novononsynonymous SNVNM_012433c.T760Cp.W254R25.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
SF3B1     NDAR_INVEW902YT9_wes1chr2:
198281565-198281565
GAexonicUnknown, De novononsynonymous SNVNM_012433c.C566Tp.A189V16.031.647E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
SF3B1     AU066104chr2:
198271787-198271787
GAintronicDe novo--Yuen2017 G
SF3B1     1-0763-004chr2:
198272616-198272616
ACintronicDe novo--Yuen2017 G
SF3B1     SSC10812chr2:
198274508-198274508
GTexonicDe novononsynonymous SNVNM_012433c.C890Ap.P297H28.1-Antaki2022 GE
Fu2022 E
Lim2017 E
Source Variant Information

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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 notesView
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