Variant Results

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Results for "RTN3"

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

RTN3

SSC10795

chr11:
63520130-63520131

TG

T

intronic

De novo

-

-

Trost2022 G

RTN3

AU002903

chr11:
63465432-63465432

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RTN3

MT_166.3

chr11:
63484265-63484265

G

A

intronic

De novo

-

-

Trost2022 G

RTN3

MSSNG00363-003

chr11:
63492785-63492785

T

G

intronic

De novo

-

-

Trost2022 G

RTN3

7-0199-003

chr11:
63451357-63451357

C

T

intronic

De novo

-

-

Trost2022 G

RTN3

4-0074-003

chr11:
63481597-63481597

A

C

intronic

De novo

-

-

Trost2022 G

RTN3

Codina-Sola2015:ASD_4

chr11:
63486837-63486837

C

CAG

exonic

Maternal

frameshift insertion

NM_001265590
NM_201428
NM_001265589

c.527_528insAG
c.806_807insAG
c.863_864insAG

p.S176fs
p.S269fs
p.S288fs

-

-

Codina-Sola2015 E

RTN3

mAGRE5950

chr11:
63486705-63486706

CT

C

exonic

Maternal

frameshift deletion

NM_001265590
NM_201428
NM_001265589

c.396delT
c.675delT
c.732delT

p.P132fs
p.P225fs
p.P244fs

-

-

Cirnigliaro2023 G

RTN3

13351.p1

chr11:
63520130-63520131

TG

T

intronic

De novo

-

-

Satterstrom2020 E

RTN3

AU3190305

chr11:
63514884-63514884

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RTN3

2-1212-003

chr11:
63487665-63487665

T

C

exonic

De novo

nonsynonymous SNV

NM_001265590
NM_201428
NM_001265589

c.T1355C
c.T1634C
c.T1691C

p.L452P
p.L545P
p.L564P

4.833

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

RTN3

AU4056301

chr11:
63484137-63484137

G

T

intronic

De novo

-

-

Trost2022 G
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
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