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Results for "RIOX2"

Variant Events: 8

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
RIOX2     mAGRE6021chr3:
97686367-97686375
AACTTCATCAexonicMaternalframeshift deletionNM_001042533
NM_001261829
NM_032778
NM_153182
c.63_70del
c.63_70del
c.63_70del
c.63_70del
p.Q21fs
p.Q21fs
p.Q21fs
p.Q21fs
-4.0E-4Cirnigliaro2023 G
RIOX2     AU3302302chr3:
97686367-97686375
AACTTCATCAexonicMaternalframeshift deletionNM_001042533
NM_001261829
NM_032778
NM_153182
c.63_70del
c.63_70del
c.63_70del
c.63_70del
p.Q21fs
p.Q21fs
p.Q21fs
p.Q21fs
-4.0E-4Cirnigliaro2023 G
RIOX2     MCD-010-3chr3:
97686151-97686151
TCexonicPaternalnonsynonymous SNVNM_001042533
NM_001261829
NM_032778
NM_153182
c.A287G
c.A287G
c.A287G
c.A287G
p.Y96C
p.Y96C
p.Y96C
p.Y96C
17.221.647E-5Tuncay2023 G
RIOX2     1-0751-003chr3:
97699451-97699451
CAintergenicDe novo--Yuen2017 G
RIOX2     111312chr3:
97664666-97664666
CAexonicnonsynonymous SNVNM_001042533
NM_001261829
NM_032778
NM_153182
c.G1215T
c.G1212T
c.G1212T
c.G1215T
p.M405I
p.M404I
p.M404I
p.M405I
26.23.31E-5Woodbury-Smith2022 E
RIOX2     MCD-010-3chr3:
97677992-97677992
TCexonicMaternalnonsynonymous SNVNM_001042533
NM_001261829
NM_032778
NM_153182
c.A584G
c.A584G
c.A584G
c.A584G
p.H195R
p.H195R
p.H195R
p.H195R
5.6494.0E-4Tuncay2023 G
RIOX2     5-5146-003chr3:
97671288-97671288
GAintronicDe novo--Trost2022 G
RIOX2     09C80786chr3:
97673295-97673295
CTexonicDe novosynonymous SNVNM_001042533
NM_001261829
NM_032778
NM_153182
c.G726A
c.G726A
c.G726A
c.G726A
p.A242A
p.A242A
p.A242A
p.A242A
-1.656E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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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