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Exact

Results for "TRIP12"

Variant Events: 83

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
CTexonicUnknown, Paternalnonsynonymous 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
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
TRIP12     1-0336-004chr2:
230675242-230675242
GTintronicDe novo--Trost2022 G
Yuen2017 G
TRIP12     AU3918302chr2:
230651410-230651410
GAintronicDe novo--Yuen2017 G
TRIP12     SP0034786chr2:
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-Fu2022 E
Trost2022 G
Zhou2022 GE
TRIP12     13367.p1chr2:
230642220-230642220
TCintronicDe novo--Satterstrom2020 E
Trost2022 G
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
Trost2022 G
Turner2017 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE
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
Trost2022 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE
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--Trost2022 G
Yuen2017 G
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
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--Trost2022 G
Yuen2017 G
TRIP12     SP0337907chr2:
230652283-230652283
GCexonicnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C3898G
c.C4807G
c.C4708G
c.C4852G
p.P1300A
p.P1603A
p.P1570A
p.P1618A
23.8-Zhou2022 GE
TRIP12     SP0245708chr2:
230643616-230643616
CTexonicDe novononsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.G4150A
c.G5059A
c.G4960A
c.G5104A
p.E1384K
p.E1687K
p.E1654K
p.E1702K
32.0-Trost2022 G
Zhou2022 GE
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     SP0109644chr2:
230666995-230666995
TAexonicnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.A2144T
c.A3053T
c.A2954T
c.A3098T
p.D715V
p.D1018V
p.D985V
p.D1033V
18.85-Zhou2022 GE
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     SP0004071chr2:
230661329-230661329
AGexonicnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.T2759C
c.T3668C
c.T3569C
c.T3713C
p.L920P
p.L1223P
p.L1190P
p.L1238P
23.6-Zhou2022 GE
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     SP0000903chr2:
230678980-230678983
GACAGexonicDe novononframeshift deletionNM_001284216
NM_001284215
NM_004238
NM_001284214
c.755_757del
c.1664_1666del
c.1646_1648del
c.1790_1792del
p.252_253del
p.555_556del
p.549_550del
p.597_598del
--Trost2022 G
Zhou2022 GE
TRIP12     1-0595-005chr2:
230753618-230753618
GAintronicDe novo--Trost2022 G
Yuen2017 G
TRIP12     SP0096824chr2:
230724173-230724173
CTexonicsynonymous SNVNM_001284215
NM_004238
NM_001284214
c.G216A
c.G216A
c.G342A
p.V72V
p.V72V
p.V114V
--Zhou2022 GE
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--Trost2022 G
Yuen2017 G
TRIP12     5-0019-003chr2:
230643219-230643219
AGexonicDe novononsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.T4259C
c.T5168C
c.T5069C
c.T5213C
p.I1420T
p.I1723T
p.I1690T
p.I1738T
23.0-Trost2022 G
Zhou2022 GE
TRIP12     7-0235-003chr2:
230642111-230642111
CTexonicDe novononsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.G4414A
c.G5323A
c.G5224A
c.G5368A
p.D1472N
p.D1775N
p.D1742N
p.D1790N
34.0-Trost2022 G
Zhou2022 GE
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-Fu2022 E
TRIP12     MSSNG00221-003chr2:
230669840-230669840
CGintronicDe novo--Trost2022 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-Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G
TRIP12     10C105646chr2:
230666966-230666967
ACAsplicingDe novosplicing--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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-Fu2022 E
TRIP12     1-0187-004chr2:
230673202-230673202
AGintronicDe novo--Trost2022 G
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-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TRIP12     AU4070301chr2:
230705488-230705488
GCintronicDe novo--Trost2022 G
Yuen2017 G
TRIP12     SSC07261chr2:
230636299-230636299
GAexonicnonsynonymous 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-Antaki2022 GE
TRIP12     2-1246-003chr2:
230648586-230648586
GTintronicDe novo--Trost2022 G
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-Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TRIP12     SSC03905chr2:
230650558-230650558
CTexonicnonsynonymous 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-Antaki2022 GE
TRIP12     7-0032-003chr2:
230781374-230781374
TCintronicDe novo--Trost2022 G
Yuen2017 G
TRIP12     ACGC_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-5Wang2020 T
TRIP12     M08611chr2:
230724181-230724181
GAexonicDe novo, UnknownstopgainNM_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
TRIP12     ACGC_M19571chr2:
230650514-230650514
CTexonicPaternalnonsynonymous 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-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
Zhou2022 GE
TRIP12     SF0034786.p1chr2:
230683157-230683157
CTexonicnonsynonymous 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     1-0595-004chr2:
230753618-230753618
GAintronicDe novo--Trost2022 G
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     Miyake2023:8412chr2:
230668935-230668936
AAAexonicDe novoframeshift deletionNM_001284216
NM_001284215
NM_004238
NM_001284214
c.1623delT
c.2532delT
c.2433delT
c.2577delT
p.Y541fs
p.Y844fs
p.Y811fs
p.Y859fs
--Miyake2023 E
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     Miyake2023:8251chr2:
230663998-230663998
CGsplicingDe novosplicing24.5-Miyake2023 E
TRIP12     Miyake2023:9484chr2:
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-Miyake2023 E
TRIP12     AU035204chr2:
230725194-230725194
TCexonicUnknownnonsynonymous SNVNM_001284214c.A152Gp.K51R16.643.0E-4Chahrour2012 E
TRIP12     AU3997302chr2:
230659346-230659346
GAintronicDe novo--Yuen2017 G
TRIP12     mAGRE1228chr2:
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-Cirnigliaro2023 G
TRIP12     Hu2022:2chr2:
230744756-230744756
GAexonicDe novostopgainNM_001284215
NM_001284214
NM_001284216
NM_004238
c.C40T
c.C40T
c.C40T
c.C40T
p.R14X
p.R14X
p.R14X
p.R14X
37.0-Hu2022 T
TRIP12     ACGC_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
TRIP12     ACGC_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
TRIP12     Leuven2_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
TRIP12     Greenwood_15677chr2:
230668763-230668763
GAexonicUnknownnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C1796T
c.C2705T
c.C2606T
c.C2750T
p.A599V
p.A902V
p.A869V
p.A917V
34.0-Wang2020 T
TRIP12     Leuven2_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
TRIP12     1-0906-003chr2:
230700417-230700417
ACintronicDe novo--Trost2022 G
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
TRIP12     ACGC_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
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     TASC_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-Wang2020 T
TRIP12     ACGC_M08611chr2:
230724181-230724181
GAexonicDe novostopgainNM_001284215
NM_004238
NM_001284214
c.C208T
c.C208T
c.C334T
p.R70X
p.R70X
p.R112X
34.0-Wang2020 T
TRIP12     AGRE_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-Wang2020 T
TRIP12     Naples_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
TRIP12     SanDiego_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
TRIP12     Greenwood_Cms23875chr2:
230679041-230679044
GCTGGATAsplicingUnknownsplicing--Wang2020 T
TRIP12     Leuven_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
TRIP12     Krgovic2022:011139chr2:
230650529-230650529
CCCexonicDe novoframeshift insertionNM_001284216
NM_001284215
NM_004238
NM_001284214
c.4003dupG
c.4912dupG
c.4813dupG
c.4957dupG
p.V1335fs
p.V1638fs
p.V1605fs
p.V1653fs
--Krgovic2022 E
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

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Paper alias:

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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
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