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Results for "RTN4"

Variant Events: 15

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     AU3680302chr2:
55257855-55257855
TGintronicDe novo--Yuen2017 G
RTN4     2-1567-004chr2:
55276019-55276019
ACintronicDe novo--Yuen2017 G
RTN4     Lim2017:37039chr2:
55253033-55253033
TCexonicDe novosynonymous SNVNM_020532
NM_207521
c.A2202G
c.A1584G
p.L734L
p.L528L
--Lim2017 E
RTN4     AU1939301chr2:
55209660-55209660
AGexonicDe novosynonymous SNVNM_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-Satterstrom2020 E
RTN4     2-1567-004chr2:
55268184-55268184
GCintronicDe novo--Yuen2017 G
RTN4     2-1567-004chr2:
55268036-55268036
TCintronicDe novo--Yuen2017 G
RTN4     12568.p1chr2:
55363387-55363387
GCintergenicDe novo--Turner2016 G
RTN4     11252.p1chr2:
55391994-55391994
TGintergenicDe novo--Turner2016 G
RTN4     2-1280-003chr2:
55301447-55301448
CACintergenicDe novo--Yuen2017 G
RTN4     1-0300-004chr2:
55205821-55205821
CTintronicDe novo--Yuen2017 G
RTN4     AU4015303chr2:
55228528-55228528
TCintronicDe novo--Yuen2017 G
RTN4     7-0080-003chr2:
55381297-55381297
CAintergenicDe novo--Yuen2017 G
RTN4     14623.p1chr2:
55253033-55253033
TCexonicDe novosynonymous SNVNM_020532
NM_207521
c.A2202G
c.A1584G
p.L734L
p.L528L
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
RTN4     1-0458-004chr2:
55253907-55253907
TAexonicDe novononsynonymous SNVNM_020532
NM_207521
c.A1328T
c.A710T
p.D443V
p.D237V
16.04-Yuen2015 G
Yuen2017 G
RTN4     1-0336-004chr2:
55394707-55394707
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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