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Results for "UIMC1"

Variant Events: 58

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
UIMC1     AU3154302chr5:
176378549-176378549		CCAexonicMaternalstopgainNM_001199298
NM_016290
NM_001199297		c.1368dupT
c.1368dupT
c.1368dupT		p.D457_L458delinsX
p.D457_L458delinsX
p.D457_L458delinsX		--Cirnigliaro2023 G
UIMC1     AU3154301chr5:
176378549-176378549		CCAexonicMaternalstopgainNM_001199298
NM_016290
NM_001199297		c.1368dupT
c.1368dupT
c.1368dupT		p.D457_L458delinsX
p.D457_L458delinsX
p.D457_L458delinsX		--Cirnigliaro2023 G
UIMC1     ACGC_M32834chr5:
176395929-176395936		TAGTTCACTexonicUnknownframeshift deletionNM_001199298
NM_016290
NM_001199297		c.820_826del
c.820_826del
c.820_826del		p.V274fs
p.V274fs
p.V274fs		--Wang2020 T
UIMC1     1-0559-004chr5:
176448296-176448301		GAAAGAGintergenicDe novo--Yuen2017 G
UIMC1     AU3885304chr5:
176399830-176399830		GCintronicDe novo--Trost2022 G
Yuen2017 G
UIMC1     TASC_220-9737-201chr5:
176334157-176334157		GAexonicDe novostopgainNM_001199298
NM_016290
NM_001199297		c.C1870T
c.C1870T
c.C1870T		p.R624X
p.R624X
p.R624X		39.0-Wang2020 T
UIMC1     Gecz3_37628chr5:
176334157-176334157		GAexonicUnknownstopgainNM_001199298
NM_016290
NM_001199297		c.C1870T
c.C1870T
c.C1870T		p.R624X
p.R624X
p.R624X		39.0-Wang2020 T
UIMC1     SP0022880chr5:
176335470-176335470		ATintronicDe novo--Trost2022 G
UIMC1     ACGC_M23121chr5:
176334157-176334157		GAexonicMaternalstopgainNM_001199298
NM_016290
NM_001199297		c.C1870T
c.C1870T
c.C1870T		p.R624X
p.R624X
p.R624X		39.0-Wang2020 T
UIMC1     mAGRE2072chr5:
176395801-176395801		CCTexonicMaternalframeshift insertionNM_001199298
NM_016290
NM_001199297		c.954dupA
c.954dupA
c.954dupA		p.G319fs
p.G319fs
p.G319fs		--Cirnigliaro2023 G
UIMC1     mAGRE2071chr5:
176395801-176395801		CCTexonicMaternalframeshift insertionNM_001199298
NM_016290
NM_001199297		c.954dupA
c.954dupA
c.954dupA		p.G319fs
p.G319fs
p.G319fs		--Cirnigliaro2023 G
UIMC1     mAGRE2070chr5:
176395801-176395801		CCTexonicMaternalframeshift insertionNM_001199298
NM_016290
NM_001199297		c.954dupA
c.954dupA
c.954dupA		p.G319fs
p.G319fs
p.G319fs		--Cirnigliaro2023 G
UIMC1     mAGRE3003chr5:
176383011-176383011		TCexonicDe novononsynonymous SNVNM_001199298
NM_016290
NM_001199297		c.A1288G
c.A1288G
c.A1288G		p.S430G
p.S430G
p.S430G		11.31-Cirnigliaro2023 G
UIMC1     220-9737-201chr5:
176334157-176334157		GAexonicDe novostopgainNM_001199298
NM_016290
NM_001199297		c.C1870T
c.C1870T
c.C1870T		p.R624X
p.R624X
p.R624X		39.0-Stessman2017 T
UIMC1     M23121chr5:
176334157-176334157		GAexonicMaternalstopgainNM_001199298
NM_016290
NM_001199297		c.C1870T
c.C1870T
c.C1870T		p.R624X
p.R624X
p.R624X		39.0-Guo2018 T
Wang2016 T
UIMC1     12286_p1chr5:
176334136-176334136		GCexonicDe novononsynonymous SNVNM_001199298
NM_016290
NM_001199297		c.C1891G
c.C1891G
c.C1891G		p.Q631E
p.Q631E
p.Q631E		16.03-Fu2022 E
UIMC1     REACH000613chr5:
176413730-176413730		CTintronicDe novo--Trost2022 G
UIMC1     5927chr5:
176409516-176409516		CTexonicDe novononsynonymous SNVNM_001199298
NM_016290
NM_001199297		c.G101A
c.G101A
c.G101A		p.R34H
p.R34H
p.R34H		19.25.766E-5Fu2022 E
Trost2022 G
UIMC1     3-0338-000chr5:
176414640-176414640		GCintronicDe novo--Trost2022 G
UIMC1     MSSNG00389-003chr5:
176370568-176370568		CTintronicDe novo--Trost2022 G
UIMC1     Cukier2014:18074chr5:
176409574-176409574		GAexonicUnknownnonsynonymous SNVNM_001199298
NM_016290
NM_001199297		c.C43T
c.C43T
c.C43T		p.R15W
p.R15W
p.R15W		12.580.0107Cukier2014 E
UIMC1     1-0567-003chr5:
176425168-176425168		TTGTGGTAGintronicDe novo--Trost2022 G
Yuen2017 G
UIMC1     MSSNG00336-004chr5:
176377097-176377103		CTTTCTTCintronicDe novo--Trost2022 G
UIMC1     AU2310301chr5:
176348217-176348217		AGintronicDe novo--Trost2022 G
UIMC1     5-5057-003chr5:
176356293-176356293		GAintronicDe novo--Trost2022 G
UIMC1     2-1619-003chr5:
176440278-176440278		CTintergenicDe novo--Yuen2017 G
UIMC1     iHART2070chr5:
176395801-176395801		CCTexonicMaternalframeshift insertionNM_001199298
NM_016290
NM_001199297		c.954dupA
c.954dupA
c.954dupA		p.G319fs
p.G319fs
p.G319fs		--Ruzzo2019 G
UIMC1     iHART2072chr5:
176395801-176395801		CCTexonicMaternalframeshift insertionNM_001199298
NM_016290
NM_001199297		c.954dupA
c.954dupA
c.954dupA		p.G319fs
p.G319fs
p.G319fs		--Ruzzo2019 G
UIMC1     iHART3087chr5:
176378549-176378549		CCAexonicMaternalstopgainNM_001199298
NM_016290
NM_001199297		c.1368dupT
c.1368dupT
c.1368dupT		p.D457_L458delinsX
p.D457_L458delinsX
p.D457_L458delinsX		--Ruzzo2019 G
UIMC1     iHART3086chr5:
176378549-176378549		CCAexonicMaternalstopgainNM_001199298
NM_016290
NM_001199297		c.1368dupT
c.1368dupT
c.1368dupT		p.D457_L458delinsX
p.D457_L458delinsX
p.D457_L458delinsX		--Ruzzo2019 G
UIMC1     iHART2071chr5:
176395801-176395801		CCTexonicMaternalframeshift insertionNM_001199298
NM_016290
NM_001199297		c.954dupA
c.954dupA
c.954dupA		p.G319fs
p.G319fs
p.G319fs		--Ruzzo2019 G
UIMC1     iHART3003chr5:
176383011-176383011		TCexonicDe novononsynonymous SNVNM_001199298
NM_016290
NM_001199297		c.A1288G
c.A1288G
c.A1288G		p.S430G
p.S430G
p.S430G		11.31-Ruzzo2019 G
UIMC1     Lim2017:70282chr5:
176334136-176334136		GCexonicDe novononsynonymous SNVNM_001199298
NM_016290
NM_001199297		c.C1891G
c.C1891G
c.C1891G		p.Q631E
p.Q631E
p.Q631E		16.03-Lim2017 E
UIMC1     12286.p1chr5:
176334136-176334136		GCexonicUnknown, De novononsynonymous SNVNM_001199298
NM_016290
NM_001199297		c.C1891G
c.C1891G
c.C1891G		p.Q631E
p.Q631E
p.Q631E		16.03-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE
UIMC1     12285.p1chr5:
176409516-176409516		CTexonicUnknown, De novononsynonymous SNVNM_001199298
NM_016290
NM_001199297		c.G101A
c.G101A
c.G101A		p.R34H
p.R34H
p.R34H		19.25.766E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wang2020 T
Zhou2022 GE
UIMC1     1-0636-003chr5:
176430200-176430214		CCACACACACACACACCACACACACACAintronicDe novo--Yuen2017 G
UIMC1     2-1355-003chr5:
176407258-176407258		CTintronicDe novo--Yuen2017 G
UIMC1     1-0261-003chr5:
176426426-176426426		CCTCTTTintronicDe novo--Yuen2017 G
UIMC1     217-14194-3180chr5:
176332447-176332447		GAexonicPaternalstopgainNM_001199298
NM_016290
NM_001199297		c.C1996T
c.C1996T
c.C1996T		p.Q666X
p.Q666X
p.Q666X		33.01.651E-5Stessman2017 T
UIMC1     SF0128163.p1chr5:
176395963-176395963		TCexonicnonsynonymous SNVNM_001199298
NM_016290
NM_001199297		c.A793G
c.A793G
c.A793G		p.K265E
p.K265E
p.K265E		12.88-Wang2020 T
UIMC1     TASC_217-14194-3180chr5:
176332447-176332447		GAexonicPaternalstopgainNM_001199298
NM_016290
NM_001199297		c.C1996T
c.C1996T
c.C1996T		p.Q666X
p.Q666X
p.Q666X		33.01.651E-5Wang2020 T
UIMC1     Leuven_294786chr5:
176332447-176332447		GAexonicUnknownstopgainNM_001199298
NM_016290
NM_001199297		c.C1996T
c.C1996T
c.C1996T		p.Q666X
p.Q666X
p.Q666X		33.01.651E-5Wang2020 T
UIMC1     SF0022861.p2chr5:
176335648-176335648		TCexonicnonsynonymous SNVNM_001199298
NM_016290
NM_001199297		c.A1724G
c.A1724G
c.A1724G		p.Y575C
p.Y575C
p.Y575C		19.49-Wang2020 T
UIMC1     2-1350-004chr5:
176412428-176412429		GCGintronicDe novo--Trost2022 G
Yuen2017 G
UIMC1     M32487chr5:
176409546-176409547		GTGexonicMaternalframeshift deletionNM_001199298
NM_016290
NM_001199297		c.70delA
c.70delA
c.70delA		p.T24fs
p.T24fs
p.T24fs		--Guo2018 T
UIMC1     1-0595-004chr5:
176426426-176426426		CCTCTTTintronicDe novo--Yuen2017 G
UIMC1     ACGC_M32487chr5:
176409546-176409547		GTGexonicMaternalframeshift deletionNM_001199298
NM_016290
NM_001199297		c.70delA
c.70delA
c.70delA		p.T24fs
p.T24fs
p.T24fs		--Wang2020 T
UIMC1     AU046703chr5:
176409556-176409556		CTexonicUnknown, De novononsynonymous SNVNM_001199298
NM_016290
NM_001199297		c.G61A
c.G61A
c.G61A		p.D21N
p.D21N
p.D21N		16.27-Trost2022 G
Wang2020 T
Yuen2017 G
Zhou2022 GE
UIMC1     M32834chr5:
176395929-176395936		TAGTTCACTexonicUnknownframeshift deletionNM_001199298
NM_016290
NM_001199297		c.820_826del
c.820_826del
c.820_826del		p.V274fs
p.V274fs
p.V274fs		--Guo2018 T
UIMC1     ACGC_M13462chr5:
176397869-176397869		TCsplicingMaternalsplicing15.78-Wang2020 T
UIMC1     SP0128163chr5:
176395963-176395963		TCexonicDe novononsynonymous SNVNM_001199298
NM_016290
NM_001199297		c.A793G
c.A793G
c.A793G		p.K265E
p.K265E
p.K265E		12.88-Fu2022 E
Trost2022 G
Zhou2022 GE
UIMC1     SP0022880chr5:
176335648-176335648		TCexonicDe novononsynonymous SNVNM_001199298
NM_016290
NM_001199297		c.A1724G
c.A1724G
c.A1724G		p.Y575C
p.Y575C
p.Y575C		19.49-Fu2022 E
Trost2022 G
Zhou2022 GE
UIMC1     SP0051146chr5:
176397656-176397656		GAintronicDe novo--Fu2022 E
Trost2022 G
UIMC1     SP0072995chr5:
176409485-176409485		GAexonicDe novosynonymous SNVNM_001199298
NM_016290
NM_001199297		c.C132T
c.C132T
c.C132T		p.S44S
p.S44S
p.S44S		-8.238E-6Fu2022 E
Trost2022 G
Zhou2022 GE
UIMC1     AGRE_05C49384chr5:
176395801-176395801		CCTexonicMaternalframeshift insertionNM_001199298
NM_016290
NM_001199297		c.954dupA
c.954dupA
c.954dupA		p.G319fs
p.G319fs
p.G319fs		--Wang2020 T
UIMC1     AGRE_05C49382chr5:
176395801-176395801		CCTexonicMaternalframeshift insertionNM_001199298
NM_016290
NM_001199297		c.954dupA
c.954dupA
c.954dupA		p.G319fs
p.G319fs
p.G319fs		--Wang2020 T
UIMC1     ACGC_4363chr5:
176402396-176402401		CGTGCGCATGCAexonicUnknownnonframeshift substitutionNM_001199298
NM_016290
NM_001199297		c.228_232TGCAT
c.228_232TGCAT
c.228_232TGCAT		N/A
N/A
N/A		--Wang2020 T
UIMC1     M13462chr5:
176397869-176397869		TCsplicingMaternalsplicing15.78-Guo2018 T
Stessman2017 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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