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Results for "UIMC1"

Variant Events: 45

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     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     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     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     1-0559-004chr5:
176448296-176448301
GAAAGAGintergenicDe novo--Yuen2017 G
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--Yuen2017 G
UIMC1     AU3885304chr5:
176399830-176399830
GCintronicDe novo--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     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     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     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     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     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
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     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--Yuen2017 G
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-Wang2020 T
Yuen2017 G
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
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
UIMC1     2-1619-003chr5:
176440278-176440278
CTintergenicDe novo--Yuen2017 G
UIMC1     SP0051146chr5:
176397656-176397656
GAintronicDe novo--Fu2022 E
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
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     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     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     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     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     M13462chr5:
176397869-176397869
TCsplicingMaternalsplicing15.78-Guo2018 T
Stessman2017 T
Wang2016 T
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
Wang2020 T
Wilfert2021 G
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
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
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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