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Results for "TBR1"

Variant Events: 24

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
Wang2020 T
Wilfert2021 G
TBR1     1-0923-003chr2:
162347946-162347946
CTintergenicDe novo--Yuen2017 G
TBR1     13796.p1chr2:
162275484-162275484
AACexonicDe novoframeshift insertionNM_006593c.1051_1052insCp.S351fs--O’Roak2012a T
TBR1     217-14293-4140chr2:
162279941-162279941
CTexonicUnknownstopgainNM_006593c.C1252Tp.Q418X40.0-Wang2020 T
Wang2020 T
TBR1     SF0051441.p1chr2:
162276752-162276752
CTexonicDe novononsynonymous SNVNM_006593c.C1174Tp.R392W23.5-Wang2020 T
TBR1     SF0057248.p1chr2:
162275541-162275542
ACAexonicDe novoframeshift deletionNM_006593c.1109delCp.T370fs--Wang2020 T
TBR1     AU4029302chr2:
162343337-162343341
CATATCATintergenicDe novo--Yuen2017 G
TBR1     Uddin2014:48chr2:
162275553-162275553
ACexonicDe novononsynonymous SNVNM_006593c.A1120Cp.N374H17.63-Uddin2014 E
TBR1     BK745-01chr2:
162275499-162275499
GAexonicUnknownnonsynonymous SNVNM_006593c.G1066Ap.V356M34.01.0E-4Wang2020 T
Wang2020 T
TBR1     01064-Y4K7Cchr2:
162275499-162275499
GAexonicUnknownnonsynonymous SNVNM_006593c.G1066Ap.V356M34.01.0E-4Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
TBR1     12404.p1chr2:
162275600-162275600
CGintronicDe novo--Satterstrom2020 E
TBR1     220-9833-201chr2:
162276743-162276743
AGexonicDe novononsynonymous SNVNM_006593c.A1165Gp.K389E23.1-O’Roak2014 T
TBR1     1-0044-003chr2:
162350138-162350138
CTintergenicDe novo--Yuen2017 G
TBR1     214-17068-1chr2:
162274307-162274307
GTexonicDe novononsynonymous SNVNM_006593c.G813Tp.W271C19.13-O’Roak2014 T
TBR1     3-0456-000chr2:
162345074-162345074
CCCTintergenicDe novo--Yuen2017 G
TBR1     DEASD_1047_001chr2:
162274307-162274307
GTexonicDe novononsynonymous SNVNM_006593c.G813Tp.W271C19.13-Satterstrom2020 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
Wang2020 T
Wilfert2021 G
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
Wang2020 T
Wilfert2021 G
Willsey2013 E
TBR1     09C86693chr2:
162274307-162274307
GTexonicDe novononsynonymous SNVNM_006593c.G813Tp.W271C19.13-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
TBR1     09C86232Achr2:
162275553-162275553
ACexonicDe novononsynonymous SNVNM_006593c.A1120Cp.N374H17.63-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
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-Satterstrom2020 E
TBR1     00141-D4Z7Mchr2:
162273492-162273492
CTexonicUnknownstopgainNM_006593c.C571Tp.Q191X37.0-Wang2020 T
Wang2020 T
TBR1     60244286chr2:
162273607-162273608
AGAexonicUnknownframeshift deletionNM_006593c.687delGp.Q229fs--Wang2020 T
Wang2020 T
Source Variant Information

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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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