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Results for "SETBP1"

Variant Events: 31

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
SETBP1     517-05-104289chr18:
42531513-42531514
ACAexonicDe novoframeshift deletionNM_015559c.2209delCp.P737fs--Satterstrom2020 E
SETBP1     1-0153-005chr18:
42503911-42503911
AGintronicDe novo--Yuen2017 G
SETBP1     14012.p1chr18:
42643634-42643634
CTexonicMaternal, De novostopgainNM_015559c.C4762Tp.R1588X45.0-O’Roak2012a T
Wang2020 T
SETBP1     AU4103301chr18:
42765393-42765393
CTintergenicDe novo--Yuen2017 G
SETBP1     2018chr18:
42532265-42532265
GAexonicPaternalnonsynonymous SNVNM_015559c.G2960Ap.R987Q21.98.241E-6Wang2020 T
Wang2020 T
SETBP1     AU071Achr18:
42531877-42531877
GAexonicDe novononsynonymous SNVNM_015559c.G2572Ap.E858K23.4-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
SETBP1     5-0129-003chr18:
42665118-42665118
CTintergenicDe novo--Yuen2017 G
SETBP1     SF0056870.p1chr18:
42529892-42529892
GAexonicDe novononsynonymous SNVNM_015559c.G587Ap.G196D14.76-Wang2020 T
SETBP1     AU3811301chr18:
42665238-42665238
CTintergenicDe novo--Yuen2017 G
SETBP1     AU3913302chr18:
42502414-42502414
GAintronicDe novo--Yuen2017 G
SETBP1     BK_709_01chr18:
42530872-42530873
CACexonicMaternalframeshift deletionNM_015559c.1568delAp.H523fs--Wang2020 T
Wang2020 T
SETBP1     1-0271-004chr18:
42460813-42460813
CTintronicDe novo--Yuen2017 G
SETBP1     7-0100-004chr18:
42450132-42450132
CTintronicDe novo--Yuen2017 G
SETBP1     SF0081761.p1chr18:
42532129-42532129
CTexonicDe novononsynonymous SNVNM_015559c.C2824Tp.R942W14.053.301E-5Wang2020 T
SETBP1     246927chr18:
42533267-42533267
GTexonicUnknownnonsynonymous SNVNM_015559c.G3962Tp.R1321L26.21.673E-5Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
SETBP1     HN0113.p1chr18:
42530247-42530247
GGGTexonicUnknownframeshift insertionNM_015559c.942_943insGTp.L314fs--Wang2020 T
Wang2020 T
SETBP1     523.03chr18:
42281646-42281646
GAexonicUnknownnonsynonymous SNVNM_001130110
NM_015559
c.G335A
c.G335A
p.R112Q
p.R112Q
34.0-Wang2020 T
Wang2020 T
SETBP1     2-1358-003chr18:
42763804-42763804
AGintergenicDe novo--Yuen2017 G
SETBP1     7-0171-003chr18:
42741890-42741890
GCintergenicDe novo--Yuen2017 G
SETBP1     AU2029301chr18:
42689736-42689736
AGintergenicDe novo--Yuen2017 G
SETBP1     85684736chr18:
42533266-42533266
CTexonicUnknownnonsynonymous SNVNM_015559c.C3961Tp.R1321C18.292.508E-5Wang2020 T
Wang2020 T
SETBP1     10-12452chr18:
42533267-42533267
GTexonicUnknownnonsynonymous SNVNM_015559c.G3962Tp.R1321L26.21.673E-5Wang2020 T
Wang2020 T
Wang2020 T
SETBP1     2-1315-003chr18:
42641987-42642003
TTGTGTGTGTGTGTGTGTTGTGTGTGTGTGTGintronicDe novo--Yuen2017 G
SETBP1     YN0002.p1chr18:
42618476-42618476
GAexonicMaternalnonsynonymous SNVNM_015559c.G4027Ap.D1343N32.0-Guo2018 T
Wang2020 T
Wang2020 T
SETBP1     PN400209chr18:
42532265-42532265
GAexonicUnknownnonsynonymous SNVNM_015559c.G2960Ap.R987Q21.98.241E-6Leblond2019 E
SETBP1     2-1365-003chr18:
42523863-42523863
GAintronicDe novo--Yuen2016 G
Yuen2017 G
SETBP1     R3L9Pchr18:
42533266-42533266
CTexonicUnknownnonsynonymous SNVNM_015559c.C3961Tp.R1321C18.292.508E-5Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
SETBP1     12933.p1 Complex Event; expand row to view variants  De novononsynonymous SNV, frameshift insertion, frameshift substitutionNM_015559
NM_015559
NM_015559
NM_015559
c.2718dupG
c.C2717G
c.2717_2717delinsGG
c.2716_2717insGG
p.P906fs
p.P906R
N/A
p.P906fs
11.58-Iossifov2014 E
Iossifov2014 E
Ji2016 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Willsey2013 E
SETBP1     AU4372309chr18:
42411038-42411038
CTintronicDe novo--Yuen2017 G
SETBP1     13393.p1chr18:
42260089-42260089
TCupstreamDe novo--Turner2016 G
SETBP1     M10105chr18:
42530507-42530507
GAexonicPaternalnonsynonymous SNVNM_015559c.G1202Ap.R401Q32.01.0E-4Guo2018 T
Wang2016 T
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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