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Results for "TRIO"

Variant Events: 59

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     M21717chr5:
14482770-14482770
GAexonicMaternalnonsynonymous SNVNM_007118c.G6545Ap.R2182H32.05.779E-5Guo2018 T
Wang2016 T
TRIO     2-1359-003chr5:
14443996-14443996
GAintronicDe novo--Yuen2017 G
TRIO     HN0052.p1chr5:
14387671-14387671
CTexonicUnknownnonsynonymous SNVNM_007118c.C3695Tp.S1232F21.9-Wang2020 T
Wang2020 T
TRIO     M11429chr5:
14374420-14374420
CTexonicUnknownnonsynonymous SNVNM_007118c.C3299Tp.T1100M16.021.704E-5Wang2020 T
Wang2020 T
TRIO     02C11625chr5:
14461227-14461227
GAexonicDe novononsynonymous SNVNM_007118c.G5303Ap.R1768Q31.0-Stessman2017 T
TRIO     3-0428-000chr5:
14309707-14309707
GAintronicDe novo--Yuen2016 G
Yuen2017 G
TRIO     GD0029.p1chr5:
14482784-14482784
CTexonicUnknownnonsynonymous SNVNM_007118c.C6559Tp.R2187C20.6-Wang2020 T
Wang2020 T
TRIO     M19755chr5:
14471518-14471518
CTexonicUnknownnonsynonymous SNVNM_007118c.C5855Tp.S1952F19.76-Wang2020 T
Wang2020 T
TRIO     2-1690-003chr5:
14254900-14254900
CTintronicDe novo--Yuen2017 G
TRIO     M20306chr5:
14359525-14359525
CTexonicUnknownnonsynonymous SNVNM_007118c.C2276Tp.T759M17.94.119E-5Wang2020 T
Wang2020 T
TRIO     7-0023-003chr5:
14261797-14261797
CTintronicDe novo--Yuen2017 G
TRIO     ASDchr5:
14498281-14498281
CTexonicUnknownnonsynonymous SNVNM_007118c.C8131Tp.R2711C24.82.471E-5Wang2020 T
Wang2020 T
TRIO     M17604chr5:
14507310-14507310
GAexonicUnknownnonsynonymous SNVNM_007118c.G8692Ap.E2898K36.0-Guo2018 T
Wang2016 T
TRIO     AU4452302chr5:
14360091-14360091
CAintronicDe novo--Yuen2017 G
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     1-0004-003chr5:
14353083-14353086
GATTGintronicDe novo--Yuen2017 G
TRIO     AU3903302chr5:
14487358-14487358
GCintronicDe novo--Yuen2017 G
TRIO     2-1163-003chr5:
14567353-14567353
GAintergenicDe novo--Yuen2016 G
TRIO     03C16909chr5:
14293139-14293139
CTexonicUnknownnonsynonymous SNVNM_007118c.C1072Tp.H358Y19.99-Stessman2017 T
Wang2020 T
Wang2020 T
TRIO     5-0026-003chr5:
14392982-14392982
CTintronicDe novo--Yuen2017 G
TRIO     AU3903301chr5:
14146707-14146707
ATintronicDe novo--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
TRIO     3-0080-000chr5:
14285802-14285802
TCintronicDe novo--Yuen2016 G
Yuen2017 G
TRIO     2-1330-003chr5:
14215452-14215452
TAintronicDe novo--Yuen2016 G
Yuen2017 G
TRIO     5-0129-003chr5:
14485734-14485734
GAintronicDe novo--Yuen2017 G
TRIO     7-0251-003chr5:
14501396-14501396
GAintronicDe novo--Yuen2017 G
TRIO     13277.p1chr5:
14364820-14364820
GTexonicDe novononsynonymous SNVNM_007118c.G2649Tp.E883D15.51-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
TRIO     11009.p1chr5:
14388774-14388774
CTexonicDe novononsynonymous SNVNM_007118c.C3934Tp.R1312W17.341.649E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
TRIO     13621.p1chr5:
14394220-14394220
ATexonicDe novononsynonymous SNVNM_007118c.A4292Tp.K1431M17.83-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
TRIO     12477.p1chr5:
14472686-14472686
AATTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
TRIO     73024275chr5:
14387626-14387626
TTAexonicUnknownframeshift insertionNM_007118c.3651dupAp.I1217fs--Wang2020 T
Wang2020 T
TRIO     65286189chr5:
14462864-14462864
ATexonicUnknownstopgainNM_007118c.A5497Tp.R1833X45.0-Wang2020 T
Wang2020 T
TRIO     1-0826-004chr5:
14179698-14179698
AGintronicDe novo--Yuen2017 G
TRIO     M26778chr5:
14482770-14482770
GAexonicMaternalnonsynonymous SNVNM_007118c.G6545Ap.R2182H32.05.779E-5Guo2018 T
TRIO     2-1562-003chr5:
14406586-14406586
GAintronicDe novo--Yuen2017 G
TRIO     JS0073.p1chr5:
14507347-14507347
GAexonicUnknownnonsynonymous SNVNM_007118c.G8729Ap.R2910K36.0-Guo2018 T
TRIO     SF0074175.p1chr5:
14394211-14394211
GAexonicDe novononsynonymous SNVNM_007118c.G4283Ap.R1428Q25.9-Wang2020 T
TRIO     AU050704chr5:
14289444-14289444
ATintronicDe novo--Yuen2017 G
TRIO     SF0144720.p2chr5:
14363914-14363914
CAexonicDe novononsynonymous SNVNM_007118c.C2465Ap.T822K21.3-Wang2020 T
TRIO     Mahjani2021:6chr5:
14374372-14374372
TAexonicnonsynonymous SNVNM_007118c.T3251Ap.F1084Y21.7-Mahjani2021 E
TRIO     AU1835302 Complex Event; expand row to view variants  Maternal, Unknownframeshift deletionNM_007118c.6400delGp.V2134fs--Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
TRIO     1-0197-003chr5:
14461752-14461752
CGintronicDe novo--Yuen2017 G
TRIO     SSC08153chr5:
14394220-14394220
ATexonicDe novononsynonymous SNVNM_007118c.A4292Tp.K1431M17.83-Lim2017 E
TRIO     Lim2017:35953chr5:
14364820-14364820
GTexonicDe novononsynonymous SNVNM_007118c.G2649Tp.E883D15.51-Lim2017 E
TRIO     UK10K_SKUSE5080162chr5:
14389434-14389435
ATAexonicDe novoframeshift deletionNM_007118c.3986delTp.I1329fs--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
TRIO     10C116708chr5:
14485178-14485178
GCexonicDe novononsynonymous SNVNM_007118c.G6658Cp.V2220L14.74-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
TRIO     2-1466-003chr5:
14366862-14366862
CAintronicDe novo--Yuen2016 G
Yuen2017 G
TRIO     BK_712_01chr5:
14387944-14387944
CTexonicUnknownnonsynonymous SNVNM_007118c.C3869Tp.A1290V25.3-Wang2020 T
Wang2020 T
TRIO     2822chr5:
14387943-14387943
GTexonicUnknownnonsynonymous SNVNM_007118c.G3868Tp.A1290S25.88.414E-6Wang2020 T
Wang2020 T
TRIO     86173747chr5:
14390354-14390354
AGexonicUnknownnonsynonymous SNVNM_007118c.A4073Gp.E1358G17.26-Wang2020 T
Wang2020 T
TRIO     5-0033-004chr5:
14476921-14476921
GGAAintronicDe novo--Yuen2017 G
TRIO     AU2835301chr5:
14363928-14363928
CTexonicUnknownnonsynonymous SNVNM_007118c.C2479Tp.R827C16.83-Stessman2017 T
Wang2020 T
TRIO     1-0998-003chr5:
14173441-14173441
TGintronicDe novo--Yuen2017 G
TRIO     1-0673-003chr5:
14230117-14230117
CTintronicDe novo--Yuen2017 G
TRIO     07C70213 Complex Event; expand row to view variants  Maternalframeshift deletionNM_007118c.6400delGp.V2134fs--Stessman2017 T
Wang2020 T
Wang2020 T
TRIO     NDAR_INVHR105RBU_wes1chr5:
14489220-14489220
CGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
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
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