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Results for "TRIP12"

Variant Events: 56

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
TRIP12     M19571chr2:
230650514-230650514
CTexonicPaternal, Unknownnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.G4018A
c.G4927A
c.G4828A
c.G4972A
p.G1340S
p.G1643S
p.G1610S
p.G1658S
29.8-Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
TRIP12     212-21058-1chr2:
230679861-230679861
CTexonicUnknownnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.G650A
c.G1559A
c.G1541A
c.G1685A
p.R217Q
p.R520Q
p.R514Q
p.R562Q
31.0-Stessman2017 T
Wang2020 T
Wang2020 T
TRIP12     1-0336-004chr2:
230675242-230675242
GTintronicDe novo--Yuen2017 G
TRIP12     AU3918302chr2:
230651410-230651410
GAintronicDe novo--Yuen2017 G
TRIP12     13367.p1chr2:
230642220-230642220
TCintronicDe novo--Satterstrom2020 E
TRIP12     211-5613-4chr2:
230666966-230666967
ACAsplicingDe novosplicing--O’Roak2014 T
TRIP12     13290.p1chr2:
230636299-230636299
GAexonicDe novononsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C4709T
c.C5618T
c.C5519T
c.C5663T
p.S1570L
p.S1873L
p.S1840L
p.S1888L
34.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
O’Roak2014 T
Satterstrom2020 E
Turner2017 G
Wang2020 T
Wilfert2021 G
TRIP12     12035.p1chr2:
230650558-230650558
CTexonicDe novononsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.G3974A
c.G4883A
c.G4784A
c.G4928A
p.R1325Q
p.R1628Q
p.R1595Q
p.R1643Q
36.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
TRIP12     Uddin2014:56chr2:
230701696-230701696
GAexonicDe novostopgainNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C103T
c.C1012T
c.C1012T
c.C1138T
p.R35X
p.R338X
p.R338X
p.R380X
38.0-Uddin2014 E
TRIP12     5-0147-003chr2:
230686057-230686057
GTintronicDe novo--Yuen2017 G
TRIP12     M30805chr2:
230673073-230673073
GAexonicUnknownnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C1199T
c.C2108T
c.C2090T
c.C2234T
p.T400M
p.T703M
p.T697M
p.T745M
26.26.687E-5Wang2020 T
Wang2020 T
Wang2020 T
TRIP12     AU002403chr2:
230632431-230632431
GAexonicDe novostopgainNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C5008T
c.C5917T
c.C5818T
c.C5962T
p.R1670X
p.R1973X
p.R1940X
p.R1988X
46.0-Stessman2017 T
Stessman2017 T
Wang2020 T
Wang2020 T
TRIP12     M26846chr2:
230693951-230693951
GAexonicUnknownnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C373T
c.C1282T
c.C1264T
c.C1408T
p.R125W
p.R428W
p.R422W
p.R470W
25.6-Wang2020 T
Wang2020 T
TRIP12     M08644chr2:
230663642-230663642
CTexonicPaternalnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.G2396A
c.G3305A
c.G3206A
c.G3350A
p.G799E
p.G1102E
p.G1069E
p.G1117E
31.0-Guo2018 T
Wang2016 T
TRIP12     2-1366-003chr2:
230707959-230707965
TTAGGTATintronicDe novo--Yuen2017 G
TRIP12     03C14372chr2:
230701594-230701594
GAexonicUnknownnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C205T
c.C1114T
c.C1114T
c.C1240T
p.R69W
p.R372W
p.R372W
p.R414W
26.25.799E-5Wang2020 T
TRIP12     HN0170.p1chr2:
230673073-230673073
GAexonicUnknownnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C1199T
c.C2108T
c.C2090T
c.C2234T
p.T400M
p.T703M
p.T697M
p.T745M
26.26.687E-5Wang2020 T
Wang2020 T
TRIP12     JASD_Fam0170chr2:
230667043-230667043
GAexonicDe novononsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C2096T
c.C3005T
c.C2906T
c.C3050T
p.T699I
p.T1002I
p.T969I
p.T1017I
4.813-Takata2018 E
TRIP12     JASD_Fam0064chr2:
230663998-230663998
CGsplicingDe novosplicing24.5-Takata2018 E
TRIP12     M17677chr2:
230723547-230723547
CGexonicMaternalnonsynonymous SNVNM_001284215
NM_004238
NM_001284214
c.G842C
c.G842C
c.G968C
p.G281A
p.G281A
p.G323A
21.7-Wang2016 T
TRIP12     2-1189-003chr2:
230728443-230728443
TCintronicDe novo--Yuen2016 G
Yuen2017 G
TRIP12     JASD_Fam0109chr2:
230668934-230668935
GAGexonicDe novoframeshift deletionNM_001284216
NM_001284215
NM_004238
NM_001284214
c.1624delT
c.2533delT
c.2434delT
c.2578delT
p.S542fs
p.S845fs
p.S812fs
p.S860fs
--Takata2018 E
TRIP12     M18334chr2:
230667106-230667106
GAexonicPaternalnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C2033T
c.C2942T
c.C2843T
c.C2987T
p.T678M
p.T981M
p.T948M
p.T996M
19.94-Wang2016 T
TRIP12     M27854chr2:
230724096-230724096
GAexonicPaternalnonsynonymous SNVNM_001284215
NM_004238
NM_001284214
c.C293T
c.C293T
c.C419T
p.T98I
p.T98I
p.T140I
13.973.295E-5Wang2016 T
TRIP12     M16165chr2:
230725206-230725206
GCexonicMaternalnonsynonymous SNVNM_001284214c.C140Gp.P47R20.8-Wang2016 T
TRIP12     M17551chr2:
230661473-230661473
AGexonicPaternalnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.T2615C
c.T3524C
c.T3425C
c.T3569C
p.V872A
p.V1175A
p.V1142A
p.V1190A
8.8233.411E-5Wang2016 T
TRIP12     1-0595-005chr2:
230753618-230753618
GAintronicDe novo--Yuen2017 G
TRIP12     iHART1228chr2:
230683217-230683217
GAexonicDe novostopgainNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C427T
c.C1336T
c.C1318T
c.C1462T
p.Q143X
p.Q446X
p.Q440X
p.Q488X
39.0-Ruzzo2019 G
TRIP12     1-0763-003chr2:
230784003-230784003
GAintronicDe novo--Yuen2017 G
TRIP12     SSC06111chr2:
230701696-230701696
GAexonicDe novostopgainNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C103T
c.C1012T
c.C1012T
c.C1138T
p.R35X
p.R338X
p.R338X
p.R380X
38.0-Lim2017 E
TRIP12     10C105646chr2:
230666966-230666967
ACAsplicingDe novosplicing--Satterstrom2020 E
TRIP12     3C476chr2:
230678709-230678709
GCexonicDe novononsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C828G
c.C1737G
c.C1719G
c.C1863G
p.F276L
p.F579L
p.F573L
p.F621L
20.7-Satterstrom2020 E
TRIP12     AU4070301chr2:
230705488-230705488
GCintronicDe novo--Yuen2017 G
TRIP12     2-1246-003chr2:
230648586-230648586
GTintronicDe novo--Yuen2017 G
TRIP12     M18354chr2:
230724204-230724204
TGexonicPaternalnonsynonymous SNVNM_001284215
NM_004238
NM_001284214
c.A185C
c.A185C
c.A311C
p.Q62P
p.Q62P
p.Q104P
19.6-Wang2016 T
TRIP12     NP170chr2:
230667043-230667043
GAexonicDe novononsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C2096T
c.C3005T
c.C2906T
c.C3050T
p.T699I
p.T1002I
p.T969I
p.T1017I
4.813-Lim2017 E
Satterstrom2020 E
TRIP12     7-0032-003chr2:
230781374-230781374
TCintronicDe novo--Yuen2017 G
TRIP12     M08611chr2:
230724181-230724181
GAexonicUnknown, De novostopgainNM_001284215
NM_004238
NM_001284214
c.C208T
c.C208T
c.C334T
p.R70X
p.R70X
p.R112X
34.0-Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
TRIP12     12867.p1chr2:
230701696-230701696
GAexonicDe novostopgainNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C103T
c.C1012T
c.C1012T
c.C1138T
p.R35X
p.R338X
p.R338X
p.R380X
38.0-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
TRIP12     1-0595-004chr2:
230753618-230753618
GAintronicDe novo--Yuen2017 G
TRIP12     AU035204chr2:
230701669-230701669
CTexonicUnknownnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.G130A
c.G1039A
c.G1039A
c.G1165A
p.A44T
p.A347T
p.A347T
p.A389T
15.351.0E-4Chahrour2012 E
TRIP12     M23076chr2:
230632309-230632309
TCexonicMaternalnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.A5130G
c.A6039G
c.A5940G
c.A6084G
p.I1710M
p.I2013M
p.I1980M
p.I2028M
10.781.0E-4Wang2016 T
TRIP12     M19747chr2:
230660028-230660028
TCexonicMaternalnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.A2800G
c.A3709G
c.A3610G
c.A3754G
p.I934V
p.I1237V
p.I1204V
p.I1252V
1.1688.258E-6Wang2016 T
TRIP12     01087-Y6Y8Dchr2:
230650505-230650505
GAexonicUnknownnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C4027T
c.C4936T
c.C4837T
c.C4981T
p.R1343W
p.R1646W
p.R1613W
p.R1661W
21.4-Wang2020 T
Wang2020 T
TRIP12     352416chr2:
230663741-230663741
GAexonicUnknownnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C2297T
c.C3206T
c.C3107T
c.C3251T
p.S766L
p.S1069L
p.S1036L
p.S1084L
36.0-Wang2020 T
Wang2020 T
TRIP12     AU035204chr2:
230725194-230725194
TCexonicUnknownnonsynonymous SNVNM_001284214c.A152Gp.K51R16.643.0E-4Chahrour2012 E
TRIP12     AU3997302chr2:
230659346-230659346
GAintronicDe novo--Yuen2017 G
TRIP12     6173chr2:
230659958-230659958
CAexonicUnknownnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.G2870T
c.G3779T
c.G3680T
c.G3824T
p.S957I
p.S1260I
p.S1227I
p.S1275I
25.4-Wang2020 T
Wang2020 T
TRIP12     1-0906-003chr2:
230700417-230700417
ACintronicDe novo--Yuen2017 G
TRIP12     YN0002.p1chr2:
230672479-230672479
CTexonicPaternalnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.G1406A
c.G2315A
c.G2297A
c.G2441A
p.R469H
p.R772H
p.R766H
p.R814H
34.01.649E-5Guo2018 T
Wang2020 T
Wang2020 T
TRIP12     M26929chr2:
230679005-230679005
CTexonicPaternalnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.G733A
c.G1642A
c.G1624A
c.G1768A
p.A245T
p.A548T
p.A542T
p.A590T
23.98.239E-6Wang2016 T
TRIP12     HEN0282.p1chr2:
230662471-230662471
CTexonicPaternalnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.G2524A
c.G3433A
c.G3334A
c.G3478A
p.G842R
p.G1145R
p.G1112R
p.G1160R
32.0-Guo2018 T
TRIP12     60433376chr2:
230744732-230744732
CTexonicUnknownnonsynonymous SNVNM_001284215
NM_001284214
NM_001284216
NM_004238
c.G64A
c.G64A
c.G64A
c.G64A
p.G22R
p.G22R
p.G22R
p.G22R
23.21.0E-4Wang2020 T
Wang2020 T
TRIP12     62305685chr2:
230675881-230675881
GAexonicUnknownnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C991T
c.C1900T
c.C1882T
c.C2026T
p.R331C
p.R634C
p.R628C
p.R676C
21.9-Wang2020 T
Wang2020 T
TRIP12     SF0034786.p1chr2:
230683157-230683157
CTexonicDe novononsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.G487A
c.G1396A
c.G1378A
c.G1522A
p.E163K
p.E466K
p.E460K
p.E508K
37.0-Wang2020 T
TRIP12     M23639chr2:
230723679-230723679
GAexonicMaternalnonsynonymous SNVNM_001284215
NM_004238
NM_001284214
c.C710T
c.C710T
c.C836T
p.A237V
p.A237V
p.A279V
14.98.238E-5Wang2016 T
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
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