Variant Results

or

or

Results for "STOX2"

Variant Events: 12

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

STOX2

SSC07671

chr4:
184931420-184931420

C

T

exonic

De novo

nonsynonymous SNV

NM_020225

c.C1429T

p.R477W

15.41

Lim2017 E

STOX2

2-1772-003

chr4:
184879971-184879971

C

T

intronic

De novo

-

-

Trost2022 G

STOX2

2-0223-004

chr4:
184888718-184888718

G

TA

intronic

De novo

-

-

Trost2022 G

STOX2

5-5024-003

chr4:
184851141-184851141

C

G

intronic

De novo

-

-

Trost2022 G

STOX2

2-1377-003

chr4:
184870350-184870353

CAAT

C

intronic

De novo

-

-

Trost2022 G

STOX2

MSSNG00045-005

chr4:
184829926-184829926

G

C

intronic

De novo

-

-

Trost2022 G

STOX2

REACH000239

chr4:
184834907-184834907

G

A

intronic

De novo

-

-

Trost2022 G

STOX2

AU4234303

chr4:
184924806-184924806

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

STOX2

MT_69

chr4:
184930698-184930698

C

A

exonic

Paternal

nonsynonymous SNV

NM_020225

c.C707A

p.P236H

17.48

Toma2013 E

STOX2

AU3371301

chr4:
184865110-184865110

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

STOX2

13540.p1

chr4:
184931420-184931420

C

T

exonic

De novo

nonsynonymous SNV

NM_020225

c.C1429T

p.R477W

15.41

Ji2016 E
Krumm2015 E
Zhou2022 GE

STOX2

AU066404

chr4:
184990153-184990153

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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