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Results for "TBR1"

Variant Events: 35

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
TBR1     13814.p1chr2:
162273603-162273603		AGexonicDe novononsynonymous SNVNM_006593c.A682Gp.K228E16.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE
TBR1     SAGE_BK745-01chr2:
162275499-162275499		GAexonicUnknownnonsynonymous SNVNM_006593c.G1066Ap.V356M34.01.0E-4Wang2020 T
TBR1     13796.p1chr2:
162275484-162275484		AACexonicDe novoframeshift insertionNM_006593c.1051_1052insCp.S351fs--O’Roak2012a T
TBR1     SanDiego_01064-Y4K7Cchr2:
162275499-162275499		GAexonicUnknownnonsynonymous SNVNM_006593c.G1066Ap.V356M34.01.0E-4Wang2020 T
TBR1     SF0051441.p1chr2:
162276752-162276752		CTexonicnonsynonymous SNVNM_006593c.C1174Tp.R392W23.5-Wang2020 T
TBR1     SSC05297chr2:
162275600-162275600		CGintronicDe novo--Trost2022 G
TBR1     Uddin2014:48chr2:
162275553-162275553		ACexonicDe novononsynonymous SNVNM_006593c.A1120Cp.N374H17.63-Uddin2014 E
TBR1     AU2463301chr2:
162279941-162279941		CTexonicDe novostopgainNM_006593c.C1252Tp.Q418X40.0-Trost2022 G
TBR1     12404.p1chr2:
162275600-162275600		CGintronicDe novo--Satterstrom2020 E
TBR1     Chen2021:72chr2:
162280350-162280350		GGG exonicDe novo--Chen2021 GET
TBR1     TASC_217-14293-4140chr2:
162279941-162279941		CTexonicUnknownstopgainNM_006593c.C1252Tp.Q418X40.0-Wang2020 T
TBR1     220-9833-201chr2:
162276743-162276743		AGexonicDe novononsynonymous SNVNM_006593c.A1165Gp.K389E23.1-O’Roak2014 T
TBR1     214-17068-1chr2:
162274307-162274307		GTexonicDe novononsynonymous SNVNM_006593c.G813Tp.W271C19.13-O’Roak2014 T
TBR1     11829-1chr2:
162279868-162279871		CCTACintronicDe novo--Fu2022 E
TBR1     13796_p1chr2:
162275481-162275481		AACexonicDe novoframeshift insertionNM_006593c.1049dupCp.T350fs--Fu2022 E
TBR1     13796.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_006593c.1049dupCp.T350fs--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE
TBR1     SSC09138chr2:
162275481-162275481		AACexonicframeshift insertionNM_006593c.1049dupCp.T350fs--Antaki2022 GE
TBR1     11480.p1chr2:
162273322-162273323		ACAexonicDe novoframeshift deletionNM_006593c.402delCp.H134fs--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
TBR1     SSC03198chr2:
162273322-162273323		ACAexonicframeshift deletionNM_006593c.402delCp.H134fs--Antaki2022 GE
TBR1     SP0057248chr2:
162275541-162275542		ACAexonicDe novoframeshift deletionNM_006593c.1109delCp.T370fs--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
TBR1     1-0923-003chr2:
162347946-162347946		CTintergenicDe novo--Yuen2017 G
TBR1     AU4029302chr2:
162343337-162343341		CATATCATintergenicDe novo--Yuen2017 G
TBR1     1-0044-003chr2:
162350138-162350138		CTintergenicDe novo--Yuen2017 G
TBR1     SanDiego_00141-D4Z7Mchr2:
162273492-162273492		CTexonicUnknownstopgainNM_006593c.C571Tp.Q191X37.0-Wang2020 T
TBR1     Leuven2_60244286chr2:
162273607-162273608		AGAexonicUnknownframeshift deletionNM_006593c.687delGp.Q229fs--Wang2020 T
TBR1     3-0456-000chr2:
162345074-162345074		CCCTintergenicDe novo--Yuen2017 G
TBR1     DEASD_1047_001chr2:
162274307-162274307		GTexonicDe novononsynonymous SNVNM_006593c.G813Tp.W271C19.13-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TBR1     SP0151766chr2:
162273613-162273613		GAexonicnonsynonymous SNVNM_006593c.G692Ap.R231K20.4-Zhou2022 GE
TBR1     SP0040315chr2:
162273026-162273026		CTexonicDe novosynonymous SNVNM_006593c.C105Tp.H35H--Trost2022 G
TBR1     09C86693chr2:
162274307-162274307		GTexonicDe novononsynonymous SNVNM_006593c.G813Tp.W271C19.13-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
TBR1     SF0057248.p1chr2:
162275541-162275542		ACAexonicframeshift deletionNM_006593c.1109delCp.T370fs--Wang2020 T
TBR1     SP0051441chr2:
162276752-162276752		CTexonicDe novononsynonymous SNVNM_006593c.C1174Tp.R392W23.5-Fu2022 E
Zhou2022 GE
TBR1     09C86232Achr2:
162275553-162275553		ACexonicUnknown, De novononsynonymous SNVNM_006593c.A1120Cp.N374H17.63-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
TBR1     11480.p1chr2:
162273325-162273326		CCCexonicDe novoframeshift deletionNM_006593c.405delCp.P135fs--O’Roak2012a T
TBR1     09C83896chr2:
162276743-162276743		AGexonicDe novononsynonymous SNVNM_006593c.A1165Gp.K389E23.1-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
Source Variant Information

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Source:

Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
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Design
URL
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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.
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