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Results for "TRIO"

Variant Events: 115

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
TRIO     2-1690-003chr5:
14254900-14254900
CTintronicDe novo--Trost2022 G
Yuen2017 G
TRIO     7-0023-003chr5:
14261797-14261797
CTintronicDe novo--Yuen2017 G
TRIO     AU4452302chr5:
14360091-14360091
CAintronicDe novo--Trost2022 G
Yuen2017 G
TRIO     mAGRE5513chr5:
14481661-14481662
AGAexonicMaternalframeshift deletionNM_007118c.6400delGp.V2134fs--Cirnigliaro2023 G
TRIO     mAGRE5512chr5:
14481661-14481662
AGAexonicMaternalframeshift deletionNM_007118c.6400delGp.V2134fs--Cirnigliaro2023 G
TRIO     mAGRE4390chr5:
14461227-14461227
GAexonicDe novononsynonymous SNVNM_007118c.G5303Ap.R1768Q31.0-Cirnigliaro2023 G
TRIO     1-0004-003chr5:
14353083-14353086
GATTGintronicDe novo--Trost2022 G
Yuen2017 G
TRIO     AU3903302chr5:
14487358-14487358
GCintronicDe novo--Yuen2017 G
TRIO     SF0144720.p2chr5:
14363914-14363914
CAexonicnonsynonymous SNVNM_007118c.C2465Ap.T822K21.3-Wang2020 T
TRIO     SF0074175.p1chr5:
14394211-14394211
GAexonicnonsynonymous SNVNM_007118c.G4283Ap.R1428Q25.9-Wang2020 T
TRIO     M26778chr5:
14482770-14482770
GAexonicMaternalnonsynonymous SNVNM_007118c.G6545Ap.R2182H32.05.779E-5Guo2018 T
TRIO     AU050704chr5:
14289444-14289444
ATintronicDe novo--Trost2022 G
Yuen2017 G
TRIO     Mahjani2021:6chr5:
14374372-14374372
TAexonicnonsynonymous SNVNM_007118c.T3251Ap.F1084Y21.7-Mahjani2021 E
TRIO     AU1835302chr5:
14481662-14481663
GTTexonicMaternalframeshift deletionNM_007118c.6400delGp.V2134fs--Stessman2017 T
TRIO     1-0197-003chr5:
14461752-14461752
CGintronicDe novo--Trost2022 G
Yuen2017 G
TRIO     SSC08153chr5:
14394220-14394220
ATexonicDe novononsynonymous SNVNM_007118c.A4292Tp.K1431M17.83-Antaki2022 GE
Chan2022 G
Fu2022 E
Lim2017 E
Trost2022 G
TRIO     Lim2017:35953chr5:
14364820-14364820
GTexonicDe novononsynonymous SNVNM_007118c.G2649Tp.E883D15.51-Lim2017 E
TRIO     3-0017-000chr5:
14194074-14194074
CTintronicDe novo--Trost2022 G
TRIO     AUTPGX_1017chr5:
14205910-14205910
CTintronicDe novo--Trost2022 G
TRIO     UK10K_SKUSE5080162chr5:
14389434-14389435
ATAexonicDe novo, Unknownframeshift deletionNM_007118c.3986delTp.I1329fs--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
TRIO     SJD_50.5chr5:
14161138-14161138
GAintronicDe novo--Trost2022 G
TRIO     10C116708chr5:
14485178-14485178
GCexonicDe novo, Unknownnonsynonymous SNVNM_007118c.G6658Cp.V2220L14.74-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
TRIO     2-1466-003chr5:
14366862-14366862
CAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
TRIO     REACH000643chr5:
14188901-14188901
GTintronicDe novo--Trost2022 G
TRIO     3-0548-000chr5:
14146438-14146438
ATintronicDe novo--Trost2022 G
TRIO     SP0238911chr5:
14291276-14291276
TCexonicDe novononsynonymous SNVNM_007118c.T992Cp.V331A12.03-Trost2022 G
TRIO     5-0033-004chr5:
14476921-14476921
GGAAintronicDe novo--Yuen2017 G
TRIO     MT_40.3chr5:
14299952-14299952
CTintronicDe novo--Trost2022 G
TRIO     2-1562-004chr5:
14257969-14257969
CTGGTAintronicDe novo--Trost2022 G
TRIO     AU2835301chr5:
14363928-14363928
CTexonicUnknownnonsynonymous SNVNM_007118c.C2479Tp.R827C16.83-Stessman2017 T
TRIO     4-0062-003chr5:
14265678-14265678
ATintronicDe novo--Trost2022 G
TRIO     AU050403chr5:
14207666-14207666
CGintronicDe novo--Trost2022 G
TRIO     1-0673-003chr5:
14230117-14230117
CTintronicDe novo--Trost2022 G
Yuen2017 G
TRIO     MSSNG00375-003chr5:
14222036-14222036
GAintronicDe novo--Trost2022 G
TRIO     AU050403chr5:
14207662-14207662
CGintronicDe novo--Trost2022 G
TRIO     NDAR_INVHR105RBU_wes1chr5:
14489220-14489220
CGintronicDe novo--Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
TRIO     AU050403chr5:
14207664-14207664
CGintronicDe novo--Trost2022 G
TRIO     1-0150-004chr5:
14407065-14407065
TCintronicDe novo--Trost2022 G
TRIO     M21717chr5:
14482770-14482770
GAexonicMaternalnonsynonymous SNVNM_007118c.G6545Ap.R2182H32.05.779E-5Guo2018 T
Wang2016 T
TRIO     1-0150-004chr5:
14407068-14407070
AATCTGintronicDe novo--Trost2022 G
TRIO     MSSNG00403-003chr5:
14390122-14390122
AGintronicDe novo--Trost2022 G
TRIO     1-0150-004chr5:
14407061-14407062
ACGintronicDe novo--Trost2022 G
TRIO     SP0045624chr5:
14280580-14280580
TCintronicDe novo--Fu2022 E
TRIO     MT_50.3chr5:
14379468-14379468
AGintronicDe novo--Trost2022 G
TRIO     SP0040355chr5:
14369581-14369581
CTexonicDe novosynonymous SNVNM_007118c.C3165Tp.H1055H-5.795E-5Fu2022 E
Trost2022 G
Zhou2022 GE
TRIO     7-0457-004chr5:
14387418-14387418
GCintronicDe novo--Trost2022 G
TRIO     Hu2022:30chr5:
14474205-14474205
GAexonicUnknownnonsynonymous SNVNM_007118c.G6082Ap.D2028N29.38.248E-6Hu2022 T
TRIO     SP0145040chr5:
14485396-14485396
CTintronicDe novo-1.765E-5Fu2022 E
TRIO     REACH000564chr5:
14300672-14300672
GTintronicDe novo--Trost2022 G
TRIO     Hu2022:29chr5:
14508475-14508475
CTexonicPaternalstopgainNM_007118c.C9238Tp.R3080X49.0-Hu2022 T
TRIO     SP0004617chr5:
14286938-14286938
ACintronicDe novo--Fu2022 E
TRIO     REACH000173chr5:
14331625-14331626
GTGintronicDe novo--Trost2022 G
TRIO     SP0181717chr5:
14461399-14461399
GAexonicDe novosynonymous SNVNM_007118c.G5475Ap.P1825P--Trost2022 G
TRIO     SP0195836chr5:
14474154-14474154
AGexonicDe novononsynonymous SNVNM_007118c.A6031Gp.K2011E29.4-Trost2022 G
TRIO     2-1359-003chr5:
14443996-14443996
GAintronicDe novo--Trost2022 G
Yuen2017 G
TRIO     7-0240-005chr5:
14450284-14450284
AGintronicDe novo--Trost2022 G
TRIO     1-0346-004chr5:
14456013-14456016
CCCTTCGAintronicDe novo--Trost2022 G
TRIO     02C11625chr5:
14461227-14461227
GAexonicDe novononsynonymous SNVNM_007118c.G5303Ap.R1768Q31.0-Stessman2017 T
TRIO     1-0150-004chr5:
14407088-14407088
GAintronicDe novo--Trost2022 G
TRIO     1-0150-004chr5:
14407091-14407091
CGTintronicDe novo--Trost2022 G
TRIO     1-0150-004chr5:
14407075-14407078
TTCCGGAAintronicDe novo--Trost2022 G
TRIO     3-0428-000chr5:
14309707-14309707
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
TRIO     1-0150-004chr5:
14407083-14407085
CAGATTintronicDe novo--Trost2022 G
TRIO     SP0125277chr5:
14487787-14487787
CTexonicDe novosynonymous SNVNM_007118c.C7050Tp.P2350P--Trost2022 G
TRIO     2-1647-003chr5:
14509459-14509459
CTdownstreamDe novo--Trost2022 G
TRIO     5-5177-003chr5:
14478721-14478721
GAintronicDe novo--Trost2022 G
TRIO     MSSNG00032-004chr5:
14480121-14480121
GAsplicingDe novosplicing19.01-Trost2022 G
TRIO     M17604chr5:
14507310-14507310
GAexonicUnknownnonsynonymous SNVNM_007118c.G8692Ap.E2898K36.0-Guo2018 T
Wang2016 T
TRIO     2-1371-003chr5:
14559096-14559096
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
TRIO     2-1295-003chr5:
14410700-14410700
TAintronicDe novo--Yuen2016 G
Yuen2017 G
TRIO     M21489chr5:
14481684-14481684
GTexonicPaternalnonsynonymous SNVNM_007118c.G6422Tp.R2141L31.0-Guo2018 T
Wang2016 T
TRIO     35953chr5:
14364820-14364820
GTexonicDe novononsynonymous SNVNM_007118c.G2649Tp.E883D15.51-Fu2022 E
Trost2022 G
TRIO     AU0239-0201chr5:
14293212-14293212
CTexonicDe novononsynonymous SNVNM_007118c.C1145Tp.T382M19.58-Fu2022 E
TRIO     5317chr5:
14388774-14388774
CTexonicDe novononsynonymous SNVNM_007118c.C3934Tp.R1312W17.341.649E-5Fu2022 E
Trost2022 G
TRIO     Hu2022:68chr5:
14387875-14387875
GAexonicUnknownnonsynonymous SNVNM_007118c.G3800Ap.S1267N19.04-Hu2022 T
TRIO     2-1163-003chr5:
14567353-14567353
GAintergenicDe novo--Yuen2016 G
TRIO     03C16909chr5:
14293139-14293139
CTexonicUnknownnonsynonymous SNVNM_007118c.C1072Tp.H358Y19.99-Stessman2017 T
TRIO     5-0026-003chr5:
14392982-14392982
CTintronicDe novo--Trost2022 G
Yuen2017 G
TRIO     AU3903301chr5:
14146707-14146707
ATintronicDe novo--Trost2022 G
Yuen2017 G
TRIO     JASD_Fam0262chr5:
14143965-14143965
CTexonicDe novononsynonymous SNVNM_007118c.C131Tp.A44V14.16-Takata2018 E
TRIO     13852.p1chr5:
14487884-14487884
CGexonicDe novononsynonymous SNVNM_007118c.C7147Gp.P2383A2.47-Wilfert2021 G
Zhou2022 GE
TRIO     3-0080-000chr5:
14285802-14285802
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
TRIO     2-1330-003chr5:
14215452-14215452
TAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
TRIO     5-0129-003chr5:
14485734-14485734
GAintronicDe novo--Yuen2017 G
TRIO     7-0251-003chr5:
14501396-14501396
GAintronicDe novo--Trost2022 G
Yuen2017 G
TRIO     13277.p1chr5:
14364820-14364820
GTexonicDe novo, Unknownnonsynonymous SNVNM_007118c.G2649Tp.E883D15.51-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
TRIO     11009.p1chr5:
14388774-14388774
CTexonicDe novo, Unknownnonsynonymous SNVNM_007118c.C3934Tp.R1312W17.341.649E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
TRIO     13621.p1chr5:
14394220-14394220
ATexonicDe novo, Unknownnonsynonymous SNVNM_007118c.A4292Tp.K1431M17.83-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
TRIO     12477.p1chr5:
14472686-14472686
AATTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
TRIO     ACGC_HN0052.p1chr5:
14387671-14387671
CTexonicUnknownnonsynonymous SNVNM_007118c.C3695Tp.S1232F21.9-Wang2020 T
TRIO     ACGC_M11429chr5:
14374420-14374420
CTexonicUnknownnonsynonymous SNVNM_007118c.C3299Tp.T1100M16.021.704E-5Wang2020 T
TRIO     ACGC_GD0029.p1chr5:
14482784-14482784
CTexonicUnknownnonsynonymous SNVNM_007118c.C6559Tp.R2187C20.6-Wang2020 T
TRIO     ACGC_M19755chr5:
14471518-14471518
CTexonicUnknownnonsynonymous SNVNM_007118c.C5855Tp.S1952F19.76-Wang2020 T
TRIO     SAGE_BK_712_01chr5:
14387944-14387944
CTexonicUnknownnonsynonymous SNVNM_007118c.C3869Tp.A1290V25.3-Wang2020 T
TRIO     AGRE_03C16909chr5:
14293139-14293139
CTexonicUnknownnonsynonymous SNVNM_007118c.C1072Tp.H358Y19.99-Wang2020 T
TRIO     1-0826-004chr5:
14179698-14179698
AGintronicDe novo--Trost2022 G
Yuen2017 G
TRIO     Leuven2_86173747chr5:
14390354-14390354
AGexonicUnknownnonsynonymous SNVNM_007118c.A4073Gp.E1358G17.26-Wang2020 T
TRIO     Gecz3_40568chr5:
14471497-14471497
CTexonicUnknownnonsynonymous SNVNM_007118c.C5834Tp.S1945L18.811.657E-5Wang2020 T
TRIO     ACGC_M20306chr5:
14359525-14359525
CTexonicUnknownnonsynonymous SNVNM_007118c.C2276Tp.T759M17.94.119E-5Wang2020 T
TRIO     2-1562-003chr5:
14406586-14406586
GAintronicDe novo--Trost2022 G
Yuen2017 G
TRIO     JS0073.p1chr5:
14507347-14507347
GAexonicUnknownnonsynonymous SNVNM_007118c.G8729Ap.R2910K36.0-Guo2018 T
TRIO     Gecz3_41755chr5:
14471497-14471497
CTexonicUnknownnonsynonymous SNVNM_007118c.C5834Tp.S1945L18.811.657E-5Wang2020 T
TRIO     Gecz3_41753chr5:
14471497-14471497
CTexonicUnknownnonsynonymous SNVNM_007118c.C5834Tp.S1945L18.811.657E-5Wang2020 T
TRIO     Melbourne2_ASD_1604chr5:
14498281-14498281
CTexonicUnknownnonsynonymous SNVNM_007118c.C8131Tp.R2711C24.82.471E-5Wang2020 T
TRIO     AGRE_AU2835301chr5:
14363928-14363928
CTexonicUnknownnonsynonymous SNVNM_007118c.C2479Tp.R827C16.83-Wang2020 T
TRIO     ITAN_2822chr5:
14387943-14387943
GTexonicUnknownnonsynonymous SNVNM_007118c.G3868Tp.A1290S25.88.414E-6Wang2020 T
TRIO     APP_109975-100chr5:
14498281-14498281
CTexonicUnknownnonsynonymous SNVNM_007118c.C8131Tp.R2711C24.82.471E-5Wang2020 T
TRIO     Leuven2_65286189chr5:
14462864-14462864
ATexonicUnknownstopgainNM_007118c.A5497Tp.R1833X45.0-Wang2020 T
TRIO     SP0074175chr5:
14394211-14394211
GAexonicDe novononsynonymous SNVNM_007118c.G4283Ap.R1428Q25.9-Antaki2022 GE
Fu2022 E
Zhou2022 GE
TRIO     Leuven_73024275chr5:
14387626-14387626
TTAexonicUnknownframeshift insertionNM_007118c.3651dupAp.I1217fs--Wang2020 T
TRIO     SP0144729chr5:
14363914-14363914
CAexonicDe novononsynonymous SNVNM_007118c.C2465Ap.T822K21.3-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
TRIO     AGRE_AU1835302chr5:
14481661-14481662
AGAexonicMaternalframeshift deletionNM_007118c.6400delGp.V2134fs--Wang2020 T
TRIO     AGRE_07C70213chr5:
14481661-14481662
AGAexonicMaternalframeshift deletionNM_007118c.6400delGp.V2134fs--Wang2020 T
TRIO     1-0998-003chr5:
14173441-14173441
TGintronicDe novo--Yuen2017 G
TRIO     07C70213chr5:
14481662-14481663
GTTexonicMaternalframeshift deletionNM_007118c.6400delGp.V2134fs--Stessman2017 T
Source Variant Information

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Source:

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
Curation notesView
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