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Results for "SUFU"

Variant Events: 17

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
SUFU     AU060803chr10:
104294128-104294128
GAintronicDe novo--Trost2022 G
Yuen2017 G
SUFU     12763.p1chr10:
104263992-104263992
CAexonicDe novostopgainNM_001178133
NM_016169
c.C83A
c.C83A
p.S28X
p.S28X
37.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
SUFU     13964.p1chr10:
104286837-104286837
GAintronicDe novo--Turner2016 G
SUFU     1-0597-003chr10:
104310229-104310229
ACintronicDe novo--Trost2022 G
Yuen2017 G
SUFU     2-0144-004chr10:
104341222-104341222
GTintronicDe novo--Trost2022 G
Yuen2017 G
SUFU     2-1137-003chr10:
104351346-104351346
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SUFU     SSC06406chr10:
104263992-104263992
CAexonicDe novostopgainNM_001178133
NM_016169
c.C83A
c.C83A
p.S28X
p.S28X
37.0-Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G
SUFU     mAGRE6026chr10:
104389838-104389838
GTexonicPaternalstopgainNM_016169c.G1381Tp.E461X38.0-Cirnigliaro2023 G
SUFU     2-1174-005Bchr10:
104338302-104338302
TCintronicDe novo--Trost2022 G
Yuen2017 G
SUFU     AU4264302chr10:
104352729-104352729
GAintronicDe novo--Trost2022 G
Yuen2017 G
SUFU     1-0887-003chr10:
104393225-104393225
GAdownstreamDe novo--Trost2022 G
SUFU     ASDFI_1432chr10:
104377281-104377281
CGintronicDe novo--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SUFU     7-0416-003chr10:
104353241-104353241
GAintronicDe novo--Trost2022 G
SUFU     AU3124302chr10:
104401003-104401012
GTATATTATAGTATAintergenicDe novo--Yuen2017 G
SUFU     1-1128-003chr10:
104359043-104359043
CTintronicDe novo--Trost2022 G
SUFU     MSSNG00091-003chr10:
104264206-104264206
ATintronicDe novo--Trost2022 G
SUFU     REACH000627chr10:
104302091-104302091
TCintronicDe novo--Trost2022 G
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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