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Results for "TBL1XR1"

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
TBL1XR1     SF0128381.p1chr3:
176765286-176765286
AGexonicDe novononsynonymous SNVNM_024665c.T754Cp.W252R22.2-Wang2020 T
TBL1XR1     2-1352-003chr3:
176960061-176960061
GAintergenicDe novo--Yuen2017 G
TBL1XR1     SF0005327.p1chr3:
176765101-176765101
GCexonicDe novononsynonymous SNVNM_024665c.C851Gp.A284G16.33-Wang2020 T
TBL1XR1     AU2863302chr3:
176816524-176816524
CTintronicDe novo--Yuen2017 G
TBL1XR1     14612.p1chr3:
176752047-176752048
TATexonicDe novoframeshift deletionNM_024665c.1188delTp.T396fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
TBL1XR1     13539.p1chr3:
176828216-176828216
CTintronicDe novo--Turner2016 G
TBL1XR1     12335.p1chr3:
176765107-176765107
AGexonicDe novononsynonymous SNVNM_024665c.T845Cp.L282P21.9-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
TBL1XR1     2-1376-003chr3:
176859841-176859841
GAintronicDe novo--Yuen2016 G
Yuen2017 G
TBL1XR1     1-0296-004chr3:
176796354-176796354
CCGAAAintronicDe novo--Yuen2017 G
TBL1XR1     2-1715-003chr3:
176784031-176784031
GCintronicDe novo--Yuen2017 G
TBL1XR1     AU2975302chr3:
176901112-176901112
TCintronicDe novo--Yuen2017 G
TBL1XR1     SF0042387.p1chr3:
176756210-176756210
TGexonicDe novononsynonymous SNVNM_024665c.A938Cp.D313A19.63-Wang2020 T
TBL1XR1     SF0016120.p1chr3:
176752110-176752110
AGexonicDe novononsynonymous SNVNM_024665c.T1126Cp.W376R21.2-Wang2020 T
TBL1XR1     1-0233-004chr3:
176845445-176845445
TCintronicDe novo--Yuen2017 G
TBL1XR1     1-0119-004chr3:
176898558-176898560
CTTCintronicDe novo--Yuen2017 G
TBL1XR1     2-0238-004chr3:
176823504-176823504
GCintronicDe novo--Yuen2017 G
TBL1XR1     2-0144-004chr3:
176843984-176843984
GTintronicDe novo--Yuen2017 G
TBL1XR1     08C72719chr3:
176763960-176763960
GAexonicDe novosynonymous SNVNM_024665c.C882Tp.D294D--Satterstrom2020 E
TBL1XR1     AU2029301chr3:
176949559-176949559
AGintergenicDe novo--Yuen2017 G
TBL1XR1     AU4007301chr3:
176782998-176782998
GTintronicDe novo--Yuen2017 G
TBL1XR1     7-0249-003chr3:
176862279-176862279
CTintronicDe novo--Yuen2017 G
TBL1XR1     1-0296-003chr3:
176796354-176796354
CCGAAAintronicDe novo--Yuen2017 G
TBL1XR1     1-0526-003chr3:
176792174-176792174
GAintronicDe novo--Yuen2017 G
TBL1XR1     5B478chr3:
176768383-176768383
AATexonicDe novoframeshift insertionNM_024665c.442dupAp.M148fs--Satterstrom2020 E
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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