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Results for "RTN4RL1"

Variant Events: 9

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
RTN4RL1     5103_201_childchr17:
1840824-1840824
CTexonicDe novononsynonymous SNVNM_178568c.G292Ap.G98S23.1-Neale2012 E
RTN4RL1     2-0272-004chr17:
1913493-1913493
AGintronicDe novo--Yuen2017 G
RTN4RL1     2-1422-003chr17:
1847493-1847493
GAintronicDe novo--Yuen2017 G
RTN4RL1     AU3632301chr17:
1901380-1901380
CTintronicDe novo--Yuen2017 G
RTN4RL1     1-0375-003chr17:
1876226-1876226
CGintronicDe novo--Yuen2016 G
Yuen2017 G
RTN4RL1     10C110016chr17:
1840824-1840824
CTexonicDe novononsynonymous SNVNM_178568c.G292Ap.G98S23.1-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
RTN4RL1     2-1378-003chr17:
1844788-1844788
TCintronicDe novo--Yuen2017 G
RTN4RL1     AU4067301chr17:
1858413-1858413
CTintronicDe novo--Yuen2017 G
RTN4RL1     1-0591-003chr17:
1889667-1889667
CAintronicDe 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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