Variant Results

or

Results for "ARX"

Variant Events: 36

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

ARX

1-0564-003

chrX:
25087678-25087698

TCTTCTTCTCCTTCTCCTTCT

TCTTCT

intergenic

De novo

-

Yuen2017 G

ARX

Schaaf2011:1

chrX:
25031445-25031445

T

G

exonic

Unknown

nonsynonymous SNV

NM_139058

c.A667C

p.T223P

5.873

-

Schaaf2011 T

ARX

AU3787302

chrX:
25429082-25429089

ATTTTTTT

ATTTTTTTT

intergenic

De novo

-

Yuen2017 G

ARX

2-1173-003

chrX:
25141053-25141053

C

T

intergenic

De novo

-

Yuen2017 G

ARX

1-0439-003

chrX:
25873191-25873191

C

T

intergenic

De novo

-

Yuen2017 G

ARX

5-0146-003

chrX:
25936719-25936719

A

G

intergenic

De novo

-

Yuen2017 G

ARX

36854

chrX:
25031277-25031277

C

T

exonic

De novo

nonsynonymous SNV

NM_139058

c.G835A

p.A279T

11.48

-

Trost2022 G

ARX

AU000704

chrX:
25962978-25962978

C

G

intergenic

De novo

-

Yuen2017 G

ARX

AU3154301

chrX:
25524206-25524206

C

T

intergenic

De novo

-

Yuen2017 G

ARX

2-1379-003

chrX:
25789740-25789740

G

A

intergenic

De novo

-

Yuen2017 G

ARX

AU3787303

chrX:
25429082-25429089

ATTTTTTT

ATTTTTTTT

intergenic

De novo

-

Yuen2017 G

ARX

2-1408-003

chrX:
26118628-26118628

T

C

intergenic

De novo

-

Yuen2017 G

ARX

AU4060306

chrX:
25954835-25954835

G

A

intergenic

De novo

-

Yuen2017 G

ARX

Chen2021:23

chrX:
25031807-25031807

G

GGCCGCC

exonic

Unknown

nonframeshift insertion

NM_139058

c.304_305insGGCGGC

p.A102delinsGRP

-

Chen2021 GET

ARX

Chen2021:24

chrX:
25031910-25031910

G

T

exonic

Maternal

nonsynonymous SNV

NM_139058

c.C202A

p.P68T

12.32

-

Chen2021 GET

ARX

2-0198-005

chrX:
25060126-25060126

A

AT

intergenic

De novo

-

Yuen2017 G

ARX

1-0560-003

chrX:
25712908-25712908

T

C

intergenic

De novo

-

Yuen2017 G

ARX

2-1276-003

chrX:
25278407-25278425

AAGAGAGAGAGAGAGAGAG

AAGAGAGAGAGAGAGAG

intergenic

De novo

-

Yuen2017 G

ARX

2-1738-003

chrX:
25868096-25868096

A

G

intergenic

De novo

-

Yuen2017 G

ARX

AU3881302

chrX:
25567441-25567446

TTCTCT

TT

intergenic

De novo

-

Yuen2017 G

ARX

1-0522-003

chrX:
25676066-25676066

C

T

intergenic

De novo

-

Yuen2017 G

ARX

AU4032305

chrX:
26063037-26063037

T

C

intergenic

De novo

-

Yuen2017 G

ARX

AU3782303

chrX:
26103818-26103840

AATATATAACATATTATATATAA

AATATATAA

intergenic

De novo

-

Yuen2017 G

ARX

SSC12695

chrX:
25031277-25031277

C

T

exonic

nonsynonymous SNV

NM_139058

c.G835A

p.A279T

11.48

-

Antaki2022 GE

ARX

1-0978-003

chrX:
25564271-25564271

G

A

intergenic

De novo

-

Yuen2017 G

ARX

2-1407-003

chrX:
25756571-25756571

C

T

intergenic

De novo

-

Yuen2017 G

ARX

AU3371302

chrX:
25783612-25783612

G

A

intergenic

De novo

-

Yuen2017 G

ARX

14550.p1

chrX:
25031277-25031277

C

T

exonic

De novo

nonsynonymous SNV

NM_139058

c.G835A

p.A279T

11.48

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ARX

1-0347-003

chrX:
25547417-25547417

C

T

intergenic

De novo

-

Yuen2017 G

ARX

2-0238-003

chrX:
25181141-25181141

T

C

intergenic

De novo

-

Yuen2017 G

ARX

Ishay2021:7

chrX:
25025490-25025490

G

C

exonic

Maternal

nonsynonymous SNV

NM_139058

c.C1186G

p.P396A

12.26

1.0E-4

Ishay2021 E

ARX

Ishay2021:6

chrX:
25031502-25031502

G

T

exonic

Maternal

nonsynonymous SNV

NM_139058

c.C610A

p.R204S

8.719

-

Ishay2021 E

ARX

A0016

chrX:
25031910-25031910

G

T

exonic

Maternal

nonsynonymous SNV

NM_139058

c.C202A

p.P68T

12.32

-

Xiong2019 ET

ARX

2-1153-003

chrX:
25303746-25303765

GAGACAGACAGACAGACAGA

GAGACAGACAGACAGA

intergenic

De novo

-

Yuen2017 G

ARX

AU061003

chrX:
25344423-25344424

TC

T

intergenic

De novo

-

Yuen2017 G

ARX

SP0126453

chrX:
25031521-25031521

G

T

exonic

synonymous SNV

NM_139058

c.C591A

p.G197G

-

Zhou2022 GE

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
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