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Results for "TBX22"

Variant Events: 9

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
TBX22     1-0208-003chrX:
79482543-79482543
GAintergenicDe novo--Yuen2017 G
TBX22     AU3702307chrX:
79396283-79396283
TAintergenicDe novo--Yuen2017 G
TBX22     AU3053301chrX:
79337168-79337168
TCintergenicDe novo--Yuen2017 G
TBX22     AU009805chrX:
79403757-79403757
GTintergenicDe novo--Yuen2017 G
TBX22     1-0804-003chrX:
79300718-79300718
CTintergenicDe novo--Yuen2017 G
TBX22     14380.p1chrX:
79277939-79277939
GTexonicDe novosynonymous SNVNM_016954
NM_001109878
c.G171T
c.G171T
p.P57P
p.P57P
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
TBX22     14261.p1chrX:
79279657-79279657
GAexonicDe novo, Mosaicnonsynonymous SNVNM_001303475
NM_016954
NM_001109878
NM_001109879
c.G92A
c.G452A
c.G452A
c.G92A
p.R31H
p.R151H
p.R151H
p.R31H
17.55-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
TBX22     ASD005chrX:
79279657-79279657
GTexonicInheritednonsynonymous SNVNM_001303475
NM_016954
NM_001109878
NM_001109879
c.G92T
c.G452T
c.G452T
c.G92T
p.R31L
p.R151L
p.R151L
p.R31L
18.048.0E-5Tran2020 E
Wu2019 E
TBX22     2-1417-003chrX:
79326582-79326582
GAintergenicDe novo--Yuen2017 G
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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