or
or
Exact

Results for "UIMC1"

Variant Events: 32

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
GAexonicPaternal, UnknownstopgainNM_001199298
NM_016290
NM_001199297
c.C1996T
c.C1996T
c.C1996T
p.Q666X
p.Q666X
p.Q666X
33.01.651E-5Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
UIMC1     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
Wang2020 T
UIMC1     05C49384chr5:
176395801-176395801
CCTexonicMaternal, Unknownframeshift insertionNM_001199298
NM_016290
NM_001199297
c.954dupA
c.954dupA
c.954dupA
p.G319fs
p.G319fs
p.G319fs
--Wang2020 T
Wang2020 T
Wang2020 T
UIMC1     1-0559-004chr5:
176448296-176448301
GAAAGAGintergenicDe novo--Yuen2017 G
UIMC1     2-1350-004chr5:
176412428-176412429
GCGintronicDe novo--Yuen2017 G
UIMC1     AU3885304chr5:
176399830-176399830
GCintronicDe novo--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
Wang2020 T
Wang2020 T
UIMC1     220-9737-201chr5:
176334157-176334157
GAexonicUnknown, De novostopgainNM_001199298
NM_016290
NM_001199297
c.C1870T
c.C1870T
c.C1870T
p.R624X
p.R624X
p.R624X
39.0-Stessman2017 T
Wang2020 T
Wang2020 T
UIMC1     M23121chr5:
176334157-176334157
GAexonicMaternal, UnknownstopgainNM_001199298
NM_016290
NM_001199297
c.C1870T
c.C1870T
c.C1870T
p.R624X
p.R624X
p.R624X
39.0-Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
UIMC1     1-0595-004chr5:
176426426-176426426
CCTCTTTintronicDe novo--Yuen2017 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--Yuen2017 G
UIMC1     4363chr5:
176402397-176402401
GTGCGATGCAexonicUnknownnonframeshift substitutionNM_001199298
NM_016290
NM_001199297
c.228_232TGCAT
c.228_232TGCAT
c.228_232TGCAT
N/A
N/A
N/A
--Wang2020 T
Wang2020 T
UIMC1     AU046703chr5:
176409556-176409556
CTexonicDe 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
Wang2020 T
Wang2020 T
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     M13462chr5:
176397869-176397869
TCsplicingMaternalsplicing15.78-Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 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
GCexonicDe 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
CTexonicDe 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     SF0128163.p1chr5:
176395963-176395963
TCexonicDe novononsynonymous SNVNM_001199298
NM_016290
NM_001199297
c.A793G
c.A793G
c.A793G
p.K265E
p.K265E
p.K265E
12.88-Wang2020 T
UIMC1     SF0022861.p2chr5:
176335648-176335648
TCexonicDe novononsynonymous SNVNM_001199298
NM_016290
NM_001199297
c.A1724G
c.A1724G
c.A1724G
p.Y575C
p.Y575C
p.Y575C
19.49-Wang2020 T
UIMC1     05C49382chr5:
176395801-176395801
CCTexonicMaternalframeshift insertionNM_001199298
NM_016290
NM_001199297
c.954dupA
c.954dupA
c.954dupA
p.G319fs
p.G319fs
p.G319fs
--Wang2020 T
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

, -

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
More