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Results for "UNC80"

Variant Events: 53

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
UNC80     13405.p1chr2:
210684002-210684002
TCintronicDe novo--Krumm2015 E
Satterstrom2020 E
UNC80     12463.p1chr2:
210745771-210745771
CTexonicDe novostopgainNM_032504
NM_182587
c.C4069T
c.C4054T
p.R1357X
p.R1352X
44.0-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
UNC80     110198-100chr2:
210714270-210714270
CTexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.C3556T
c.C3541T
p.R1186C
p.R1181C
22.14.608E-5Stessman2017 T
UNC80     M30343chr2:
210858135-210858135
AGexonicMaternalnonsynonymous SNVNM_182587
NM_032504
c.A9223G
c.A9295G
p.K3075E
p.K3099E
31.04.594E-5Guo2018 T
UNC80     M19547chr2:
210707072-210707072
ATsplicingPaternalsplicing17.1-Guo2018 T
Stessman2017 T
Wang2016 T
UNC80     Stessman2017:ASD_1361chr2:
210840875-210840875
CTexonicInheritedstopgainNM_032504
NM_182587
c.C8422T
c.C8407T
p.Q2808X
p.Q2803X
50.0-Stessman2017 T
UNC80     M23700chr2:
210752840-210752840
CTexonicPaternalnonsynonymous SNVNM_032504
NM_182587
c.C4138T
c.C4123T
p.R1380C
p.R1375C
32.0-Guo2018 T
Wang2016 T
UNC80     M08596chr2:
210802287-210802287
CTexonicPaternalnonsynonymous SNVNM_032504
NM_182587
c.C6200T
c.C6185T
p.S2067L
p.S2062L
34.0-Guo2018 T
Wang2016 T
UNC80     M27889chr2:
210840974-210840974
GAexonicMaternalnonsynonymous SNVNM_032504
NM_182587
c.G8521A
c.G8506A
p.V2841M
p.V2836M
34.0-Guo2018 T
Wang2016 T
UNC80     M12443chr2:
210843331-210843331
GAexonicMaternalnonsynonymous SNVNM_032504
NM_182587
c.G8819A
c.G8804A
p.R2940H
p.R2935H
35.04.629E-5Guo2018 T
Wang2016 T
UNC80     214-17058-1chr2:
210835658-210835658
CTexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.C8035T
c.C8020T
p.R2679W
p.R2674W
16.532.0E-4Stessman2017 T
UNC80     2-1594-003chr2:
210766958-210766958
GAintronicDe novo--Yuen2017 G
UNC80     AU005213chr2:
210791693-210791693
GAexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.G5591A
c.G5576A
p.R1864Q
p.R1859Q
29.54.406E-5Stessman2017 T
UNC80     215-13023-0303chr2:
210681762-210681762
CTexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.C1465T
c.C1465T
p.R489C
p.R489C
26.94.615E-5Stessman2017 T
UNC80     5-0095-003chr2:
210727234-210727234
TCintronicDe novo--Yuen2017 G
UNC80     AU024104chr2:
210663690-210663690
GAintronicDe novo--Yuen2017 G
UNC80     M20766chr2:
210858118-210858118
GAexonicMaternalnonsynonymous SNVNM_182587
NM_032504
c.G9206A
c.G9278A
p.R3069H
p.R3093H
34.0-Guo2018 T
Stessman2017 T
Wang2016 T
UNC80     M18352chr2:
210761043-210761043
GAexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.G4289A
c.G4274A
p.S1430N
p.S1425N
33.0-Guo2018 T
Wang2016 T
UNC80     CC1082.204chr2:
210786227-210786228
TCTexonicDe novoframeshift deletionNM_032504
NM_182587
c.5150delC
c.5135delC
p.S1717fs
p.S1712fs
--Satterstrom2020 E
UNC80     1-0320-004chr2:
210674237-210674237
GAintronicDe novo--Yuen2017 G
UNC80     SSC04780chr2:
210745771-210745771
CTexonicDe novostopgainNM_032504
NM_182587
c.C4069T
c.C4054T
p.R1357X
p.R1352X
44.0-Lim2017 E
UNC80     M5L6Achr2:
210808218-210808218
GAexonicInheritednonsynonymous SNVNM_032504
NM_182587
c.G6832A
c.G6817A
p.A2278T
p.A2273T
33.0-Stessman2017 T
UNC80     215-13190-2073chr2:
210843346-210843346
CTexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.C8834T
c.C8819T
p.T2945M
p.T2940M
27.0-Stessman2017 T
UNC80     SSC10614chr2:
210824419-210824419
ACexonicDe novononsynonymous SNVNM_032504
NM_182587
c.A7595C
c.A7580C
p.K2532T
p.K2527T
26.3-Lim2017 E
UNC80     12820.p1chr2:
210674074-210674074
TCintronicMosaic Pat.--Dou2017 E
UNC80     03C16223chr2:
210681811-210681811
GAexonicInheritednonsynonymous SNVNM_032504
NM_182587
c.G1514A
c.G1514A
p.R505Q
p.R505Q
35.0-Stessman2017 T
UNC80     GX0185.p1chr2:
210858989-210858989
GAsplicingUnknownsplicing17.31-Guo2018 T
UNC80     PN400457chr2:
210704065-210704065
CTexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.C3161T
c.C3146T
p.T1054M
p.T1049M
31.0-Leblond2019 E
UNC80     03C16252chr2:
210681811-210681811
GAexonicInheritednonsynonymous SNVNM_032504
NM_182587
c.G1514A
c.G1514A
p.R505Q
p.R505Q
35.0-Stessman2017 T
UNC80     M32286chr2:
210761043-210761043
GAexonicPaternalnonsynonymous SNVNM_032504
NM_182587
c.G4289A
c.G4274A
p.S1430N
p.S1425N
33.0-Guo2018 T
UNC80     HN0078.p1chr2:
210650826-210650826
GAexonicPaternalnonsynonymous SNVNM_032504
NM_182587
c.G637A
c.G637A
p.V213I
p.V213I
35.0-Guo2018 T
UNC80     R3C2Bchr2:
210832237-210832237
CTexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.C7684T
c.C7669T
p.R2562C
p.R2557C
26.64.803E-5Stessman2017 T
UNC80     M17682chr2:
210806049-210806049
GAexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.G6553A
c.G6538A
p.E2185K
p.E2180K
23.94.644E-5Stessman2017 T
UNC80     2-0272-004chr2:
210677193-210677196
TAAGTintronicDe novo--Yuen2017 G
UNC80     03C16992chr2:
210783332-210783332
CTexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.C5090T
c.C5075T
p.P1697L
p.P1692L
26.5-Stessman2017 T
UNC80     Z3D2Schr2:
210787062-210787062
CTexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.C5419T
c.C5404T
p.R1807C
p.R1802C
28.0-Stessman2017 T
UNC80     M20652chr2:
210783326-210783326
AGexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.A5084G
c.A5069G
p.D1695G
p.D1690G
25.74.398E-5Stessman2017 T
UNC80     M16067chr2:
210737525-210737525
CAexonicMaternalnonsynonymous SNVNM_032504
NM_182587
c.C3677A
c.C3662A
p.A1226D
p.A1221D
35.0-Guo2018 T
Stessman2017 T
Wang2016 T
UNC80     13651.p1chr2:
210691362-210691362
GAintronicDe novo--Wilfert2021 G
UNC80     M18393chr2:
210782618-210782618
CGexonicPaternalnonsynonymous SNVNM_032504
NM_182587
c.C4949G
c.C4934G
p.T1650R
p.T1645R
33.0-Guo2018 T
Stessman2017 T
Wang2016 T
UNC80     GX0047.p1chr2:
210782618-210782618
CGexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.C4949G
c.C4934G
p.T1650R
p.T1645R
33.0-Guo2018 T
UNC80     AU1423304chr2:
210810654-210810654
GAexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.G7075A
c.G7060A
p.E2359K
p.E2354K
22.1-Stessman2017 T
UNC80     M19602chr2:
210704053-210704053
CTexonicMaternalnonsynonymous SNVNM_032504
NM_182587
c.C3149T
c.C3134T
p.T1050I
p.T1045I
32.04.555E-5Wang2016 T
UNC80     M15212chr2:
210745765-210745765
TCexonicPaternalnonsynonymous SNVNM_032504
NM_182587
c.T4063C
c.T4048C
p.F1355L
p.F1350L
36.0-Guo2018 T
Stessman2017 T
Wang2016 T
UNC80     2-1352-003chr2:
210670452-210670452
CTintronicDe novo--Yuen2016 G
UNC80     M02733chr2:
210761064-210761064
CTexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.C4310T
c.C4295T
p.P1437L
p.P1432L
32.0-Guo2018 T
Wang2016 T
UNC80     2-1184-003chr2:
210863874-210863874
TGUTR3De novo--Yuen2017 G
UNC80     M15079chr2:
210802262-210802262
CTexonicUnknownstopgainNM_032504
NM_182587
c.C6175T
c.C6160T
p.R2059X
p.R2054X
48.0-Guo2018 T
Wang2016 T
UNC80     14120.p1chr2:
210824419-210824419
ACexonicDe novononsynonymous SNVNM_032504
NM_182587
c.A7595C
c.A7580C
p.K2532T
p.K2527T
26.3-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
UNC80     M21477chr2:
210791708-210791708
CGexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.C5606G
c.C5591G
p.A1869G
p.A1864G
31.0-Guo2018 T
Wang2016 T
UNC80     GX0029.p1chr2:
210699694-210699694
CTexonicMaternalnonsynonymous SNVNM_032504
NM_182587
c.C3001T
c.C2986T
p.R1001C
p.R996C
32.0-Guo2018 T
UNC80     GX0521.p1chr2:
210681738-210681738
GAexonicMaternalnonsynonymous SNVNM_032504
NM_182587
c.G1441A
c.G1441A
p.D481N
p.D481N
35.0-Guo2018 T
UNC80     220-9830-202chr2:
210680059-210680059
CTexonicUnknownnonsynonymous SNVNM_032504
NM_182587
c.C1279T
c.C1279T
p.R427C
p.R427C
21.3-Stessman2017 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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