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Results for "RPS24"

Variant Events: 16

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
RPS24     AU1894303chr10:
79836758-79836758
GTintergenicDe novo--Yuen2017 G
RPS24     11456.p1chr10:
79964836-79964836
CTintergenicDe novo--Turner2016 G
RPS24     3-0437-000chr10:
79942105-79942105
GAintergenicDe novo--Yuen2016 G
RPS24     14642.p1chr10:
80006167-80006167
AGintergenicDe novo--Turner2016 G
RPS24     1-0985-003chr10:
79977342-79977342
TGintergenicDe novo--Yuen2017 G
RPS24     AU2793301chr10:
80004862-80004862
TCintergenicDe novo--Yuen2017 G
RPS24     2-0323-004chr10:
79831987-79831987
ATintergenicDe novo--Yuen2017 G
RPS24     AU3891302chr10:
79980460-79980460
GAintergenicDe novo--Yuen2017 G
RPS24     2-1526-004chr10:
79932103-79932103
TCintergenicDe novo--Yuen2017 G
RPS24     JASD_Fam0082chr10:
79814442-79814442
TAexonicDe novononsynonymous SNVNM_001142285c.T544Ap.L182M9.131-Takata2018 E
RPS24     1-0345-003chr10:
79991325-79991325
CTintergenicDe novo--Yuen2017 G
RPS24     2-0028-003chr10:
79816342-79816342
TGUTR3De novo--Yuen2016 G
Yuen2017 G
RPS24     AU1860301chr10:
79801573-79801573
GTintronicDe novo--Yuen2017 G
RPS24     AU1988301chr10:
79920810-79920810
GAintergenicDe novo--Yuen2017 G
RPS24     1-0336-003chr10:
79806182-79806182
TCintronicDe novo--Yuen2017 G
RPS24     1-0345-004chr10:
79991325-79991325
CTintergenicDe 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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