Variant Results

or

or

Results for "RTN4"

Variant Events: 23

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

RTN4

AU3680302

chr2:
55257855-55257855

T

G

intronic

De novo

-

-

Yuen2017 G

RTN4

2-1567-004

chr2:
55276019-55276019

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RTN4

Lim2017:37039

chr2:
55253033-55253033

T

C

exonic

De novo

synonymous SNV

NM_020532
NM_207521

c.A2202G
c.A1584G

p.L734L
p.L528L

-

-

Lim2017 E

RTN4

AU1939301

chr2:
55209660-55209660

A

G

exonic

De novo

synonymous SNV

NM_007008
NM_153828
NM_207520
NM_020532
NM_207521

c.T372C
c.T894C
c.T951C
c.T3351C
c.T2733C

p.D124D
p.D298D
p.D317D
p.D1117D
p.D911D

9.318

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RTN4

2-1567-004

chr2:
55268184-55268184

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RTN4

2-1567-004

chr2:
55268036-55268036

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RTN4

37039

chr2:
55253033-55253033

T

C

exonic

De novo

synonymous SNV

NM_020532
NM_207521

c.A2202G
c.A1584G

p.L734L
p.L528L

-

-

Fu2022 E
Trost2022 G

RTN4

SSC00002

chr2:
55253065-55253065

C

A

exonic

De novo

nonsynonymous SNV

NM_020532
NM_207521

c.G2170T
c.G1552T

p.V724F
p.V518F

4.482

-

Fu2022 E

RTN4

12568.p1

chr2:
55363387-55363387

G

C

intergenic

De novo

-

-

Turner2016 G

RTN4

11252.p1

chr2:
55391994-55391994

T

G

intergenic

De novo

-

-

Turner2016 G

RTN4

2-1280-003

chr2:
55301447-55301448

CA

C

intergenic

De novo

-

-

Yuen2017 G

RTN4

AU2303301

chr2:
55287363-55287363

C

T

intergenic

De novo

-

-

Trost2022 G

RTN4

MT_20.3

chr2:
55309401-55309401

C

T

intergenic

De novo

-

-

Trost2022 G

RTN4

1-0300-004

chr2:
55205821-55205821

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RTN4

AU4015303

chr2:
55228528-55228528

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RTN4

2-1763-003

chr2:
55221790-55221791

AG

A

intronic

De novo

-

-

Trost2022 G

RTN4

7-0080-003

chr2:
55381297-55381297

C

A

intergenic

De novo

-

-

Yuen2017 G

RTN4

14623.p1

chr2:
55253033-55253033

T

C

exonic

De novo

synonymous SNV

NM_020532
NM_207521

c.A2202G
c.A1584G

p.L734L
p.L528L

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

RTN4

4-0085-003

chr2:
55321414-55321414

G

C

intergenic

De novo

-

-

Trost2022 G

RTN4

1-0458-004

chr2:
55253907-55253907

T

A

exonic

De novo

nonsynonymous SNV

NM_020532
NM_207521

c.A1328T
c.A710T

p.D443V
p.D237V

16.04

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

RTN4

1-0336-004

chr2:
55394707-55394707

G

A

intergenic

De novo

-

-

Yuen2017 G

RTN4

7-0288-003

chr2:
55313295-55313295

A

C

intergenic

De novo

-

-

Trost2022 G

RTN4

MT_160.3

chr2:
55315343-55315343

G

C

intergenic

De novo

-

-

Trost2022 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
	More