or
or
Exact

Results for "TBL1XR1"

Variant Events: 51

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     2-1352-003chr3:
176960061-176960061
GAintergenicDe novo--Yuen2017 G
TBL1XR1     13539.p1chr3:
176828216-176828216
CTintronicDe novo--Turner2016 G
TBL1XR1     1-0119-004chr3:
176898558-176898560
CTTCintronicDe novo--Trost2022 G
Yuen2017 G
TBL1XR1     AU055603chr3:
176823292-176823292
ACintronicDe novo--Trost2022 G
TBL1XR1     MSSNG00438-003chr3:
176823966-176823966
CTintronicDe novo--Trost2022 G
TBL1XR1     7-0342-003chr3:
176789629-176789629
GAintronicDe novo--Trost2022 G
TBL1XR1     MSSNG00012-004Achr3:
176803740-176803740
TCintronicDe novo--Trost2022 G
TBL1XR1     3-0284-000chr3:
176771047-176771047
GAintronicDe novo--Trost2022 G
TBL1XR1     7-0373-003chr3:
176780739-176780739
AGintronicDe novo--Trost2022 G
TBL1XR1     7-0373-003chr3:
176769400-176769400
GAexonicDe novostopgainNM_024665c.C319Tp.Q107X38.0-Trost2022 G
Zhou2022 GE
TBL1XR1     7-0321-003Achr3:
176747558-176747558
ACintronicDe novo--Trost2022 G
TBL1XR1     37014chr3:
176752047-176752048
TATexonicDe novoframeshift deletionNM_024665c.1188delTp.T396fs--Trost2022 G
TBL1XR1     AU018010chr3:
176882240-176882240
CTintronicDe novo--Trost2022 G
TBL1XR1     1-0296-003chr3:
176796354-176796354
CCGAAAintronicDe novo--Trost2022 G
Yuen2017 G
TBL1XR1     REACH000569chr3:
176860708-176860708
ATintronicDe novo--Trost2022 G
TBL1XR1     MT_50.3chr3:
176863347-176863347
GAintronicDe novo--Trost2022 G
TBL1XR1     MSSNG00403-003chr3:
176836681-176836684
CATACintronicDe novo--Trost2022 G
TBL1XR1     4-0075-003chr3:
176859686-176859686
ACintronicDe novo--Trost2022 G
TBL1XR1     AU2863302chr3:
176816524-176816524
CTintronicDe novo--Trost2022 G
Yuen2017 G
TBL1XR1     AU2975302chr3:
176901112-176901112
TCintronicDe novo--Trost2022 G
Yuen2017 G
TBL1XR1     1-0233-004chr3:
176845445-176845445
TCintronicDe novo--Yuen2017 G
TBL1XR1     SP0160070chr3:
176769521-176769521
TCintronic--Zhou2022 GE
TBL1XR1     SP0016120chr3:
176752110-176752110
AGexonicnonsynonymous SNVNM_024665c.T1126Cp.W376R21.2-Antaki2022 GE
Zhou2022 GE
TBL1XR1     SSC12438chr3:
176752047-176752048
TATexonicframeshift deletionNM_024665c.1188delTp.T396fs--Antaki2022 GE
TBL1XR1     SP0098421chr3:
176767913-176767913
TCexonicnonsynonymous SNVNM_024665c.A574Gp.T192A27.5-Zhou2022 GE
TBL1XR1     SF0005327.p1chr3:
176765101-176765101
GCexonicnonsynonymous SNVNM_024665c.C851Gp.A284G16.33-Wang2020 T
TBL1XR1     SF0042387.p1chr3:
176756210-176756210
TGexonicnonsynonymous SNVNM_024665c.A938Cp.D313A19.63-Wang2020 T
TBL1XR1     SF0128381.p1chr3:
176765286-176765286
AGexonicnonsynonymous SNVNM_024665c.T754Cp.W252R22.2-Wang2020 T
TBL1XR1     SSC04911chr3:
176765107-176765107
AGexonicnonsynonymous SNVNM_024665c.T845Cp.L282P21.9-Antaki2022 GE
TBL1XR1     SP0042387chr3:
176756210-176756210
TGexonicDe novononsynonymous SNVNM_024665c.A938Cp.D313A19.63-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
TBL1XR1     SF0016120.p1chr3:
176752110-176752110
AGexonicnonsynonymous SNVNM_024665c.T1126Cp.W376R21.2-Wang2020 T
TBL1XR1     SP0128381chr3:
176765286-176765286
AGexonicDe novononsynonymous SNVNM_024665c.T754Cp.W252R22.2-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
TBL1XR1     SP0005327chr3:
176765101-176765101
GCexonicDe novononsynonymous SNVNM_024665c.C851Gp.A284G16.33-Fu2022 E
Zhou2022 GE
TBL1XR1     14612.p1chr3:
176752047-176752048
TATexonicDe novoframeshift deletionNM_024665c.1188delTp.T396fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lowther2023 G
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
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
Trost2022 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE
TBL1XR1     2-1376-003chr3:
176859841-176859841
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
TBL1XR1     C235803chr3:
176771668-176771668
GCexonicDe novononsynonymous SNVNM_024665c.C97Gp.H33D22.8-Fu2022 E
TBL1XR1     2-0238-004chr3:
176823504-176823504
GCintronicDe novo--Trost2022 G
Yuen2017 G
TBL1XR1     EX04Achr3:
176769377-176769377
GAexonicDe novosynonymous SNVNM_024665c.C342Tp.A114A-2.499E-5Fu2022 E
TBL1XR1     AU4007301chr3:
176782998-176782998
GTintronicDe novo--Trost2022 G
Yuen2017 G
TBL1XR1     1-0526-003chr3:
176792174-176792174
GAintronicDe novo--Trost2022 G
Yuen2017 G
TBL1XR1     5B478chr3:
176768383-176768383
AATexonicDe novoframeshift insertionNM_024665c.442dupAp.M148fs--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TBL1XR1     1-0296-004chr3:
176796354-176796354
CCGAAAintronicDe novo--Trost2022 G
Yuen2017 G
TBL1XR1     2-1715-003chr3:
176784031-176784031
GCintronicDe novo--Trost2022 G
Yuen2017 G
TBL1XR1     Krgovic2022:022941chr3:
176769415-176769417
TATTexonicUnknownframeshift deletionNM_024665c.302_303delp.D101fs--Krgovic2022 E
TBL1XR1     Krgovic2022:022940chr3:
176769415-176769417
TATTexonicUnknownframeshift deletionNM_024665c.302_303delp.D101fs--Krgovic2022 E
TBL1XR1     2-0144-004chr3:
176843984-176843984
GTintronicDe novo--Trost2022 G
Yuen2017 G
TBL1XR1     Krgovic2022:040139chr3:
176752053-176752053
AGexonicDe novononsynonymous SNVNM_024665c.T1183Cp.Y395H26.0-Krgovic2022 E
TBL1XR1     08C72719chr3:
176763960-176763960
GAexonicDe novosynonymous SNVNM_024665c.C882Tp.D294D--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TBL1XR1     AU2029301chr3:
176949559-176949559
AGintergenicDe novo--Yuen2017 G
TBL1XR1     7-0249-003chr3:
176862279-176862279
CTintronicDe novo--Yuen2017 G
Source Variant Information

, -

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
More