Variant Results

or

or

Results for "ATRX"

Variant Events: 14

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

ATRX

G010396

chrX:
76889089-76889089

A

G

exonic

nonsynonymous SNV

NM_138270
NM_000489

c.T4807C
c.T4921C

p.W1603R
p.W1641R

17.05

-

Sanchis-Juan2023 G

ATRX

Ishay2021:8

chrX:
76763912-76763912

C

T

exonic

Maternal

nonsynonymous SNV

NM_138270
NM_000489

c.G7282A
c.G7396A

p.G2428S
p.G2466S

12.36

-

Ishay2021 E

ATRX

Mahjani2021:49

chrX:
76944372-76944372

A

G

exonic

nonsynonymous SNV

NM_138270
NM_000489

c.T419C
c.T533C

p.V140A
p.V178A

17.9

-

Mahjani2021 E

ATRX

AU-12500

chrX:
76918960-76918960

T

C

exonic

Inherited

nonsynonymous SNV

NM_138270
NM_000489

c.A3917G
c.A4031G

p.K1306R
p.K1344R

14.58

Yu2013 E

ATRX

AU2787301

chrX:
76926649-76926663

AAAAAAAAATATATA

AA

intronic

De novo

-

-

Yuen2017 G

ATRX

AU038703

chrX:
76898173-76898173

T

A

intronic

De novo

-

-

Yuen2017 G

ATRX

Li2017:17685

chrX:
76814250-76814250

C

T

exonic

Unknown

nonsynonymous SNV

NM_138270
NM_000489

c.G6280A
c.G6394A

p.V2094I
p.V2132I

19.67

-

Li2017 T

ATRX

2-0309-004

chrX:
76958696-76958696

C

G

intronic

De novo

-

-

Yuen2017 G

ATRX

AU076705

chrX:
76897589-76897589

G

T

intronic

De novo

-

-

Yuen2017 G

ATRX

ASD035

chrX:
76938776-76938776

G

A

exonic

Inherited

nonsynonymous SNV

NM_138270
NM_000489

c.C1858T
c.C1972T

p.R620C
p.R658C

10.7

-

Tran2020 E
Wu2019 E

ATRX

AU2787302

chrX:
76926649-76926663

AAAAAAAAATATATA

AA

intronic

De novo

-

-

Yuen2017 G

ATRX

1-0567-004

chrX:
76768493-76768493

T

A

intronic

De novo

-

-

Yuen2017 G

ATRX

SP0015356

chrX:
76972632-76972632

G

A

exonic

Inherited

stopgain

NM_000489
NM_138270

c.C109T
c.C109T

p.R37X
p.R37X

39.0

-

Feliciano2019 E

ATRX

AU2072302

chrX:
76814556-76814556

G

A

intronic

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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