Variant Results

or

Results for "TBX22"

Variant Events: 11

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

1-0208-003

chrX:
79482543-79482543

G

A

intergenic

De novo

-

Yuen2017 G

TBX22

AU3702307

chrX:
79396283-79396283

T

A

intergenic

De novo

-

Yuen2017 G

TBX22

AU3053301

chrX:
79337168-79337168

T

C

intergenic

De novo

-

Yuen2017 G

TBX22

36066

chrX:
79279657-79279657

G

A

exonic

De novo

nonsynonymous SNV

NM_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

-

Trost2022 G

TBX22

36145

chrX:
79277939-79277939

G

T

exonic

De novo

synonymous SNV

NM_016954
NM_001109878

c.G171T
c.G171T

p.P57P
p.P57P

-

Trost2022 G

TBX22

AU009805

chrX:
79403757-79403757

G

T

intergenic

De novo

-

Yuen2017 G

TBX22

1-0804-003

chrX:
79300718-79300718

C

T

intergenic

De novo

-

Yuen2017 G

TBX22

14380.p1

chrX:
79277939-79277939

G

T

exonic

De novo

synonymous SNV

NM_016954
NM_001109878

c.G171T
c.G171T

p.P57P
p.P57P

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

TBX22

14261.p1

chrX:
79279657-79279657

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_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
Zhou2022 GE

TBX22

ASD005

chrX:
79279657-79279657

G

T

exonic

Inherited

nonsynonymous SNV

NM_001303475
NM_016954
NM_001109878
NM_001109879

c.G92T
c.G452T
c.G452T
c.G92T

p.R31L
p.R151L
p.R151L
p.R31L

18.04

8.0E-5

Tran2020 E
Wu2019 E

TBX22

2-1417-003

chrX:
79326582-79326582

G

A

intergenic

De 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 notes	View
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