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Results for "RPS6KA3"

Variant Events: 37

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
RPS6KA3     2-1112-003chrX:
20640000-20640000
CAintergenicDe novo--Yuen2017 G
RPS6KA3     AU4284301chrX:
20590713-20590744
ATATATATATATATATTTTTTTTTTTTTTTTTATintergenicDe novo--Yuen2017 G
RPS6KA3     12850.p1chrX:
20227514-20227514
GAexonicDe novosynonymous SNVNM_004586c.C135Tp.V45V--Krumm2015 E
RPS6KA3     AU3885305chrX:
20851716-20851716
CAintergenicDe novo--Yuen2017 G
RPS6KA3     5-0146-003chrX:
21341902-21341912
CTTTTTTTTTTCTTTTTTTTTintergenicDe novo--Yuen2017 G
RPS6KA3     Mahjani2021:80chrX:
20187563-20187563
AGexonicnonsynonymous SNVNM_004586c.T1400Cp.L467P22.0-Mahjani2021 E
RPS6KA3     1-0998-003chrX:
20691951-20691967
TTTTCTTTTCTTTCTTTTTTTCTTTTCTTTCTTTTCTTTCTTTintergenicDe novo--Yuen2017 G
RPS6KA3     AU050603chrX:
20743920-20743920
GAintergenicDe novo--Yuen2017 G
RPS6KA3     1-0744-003chrX:
21361918-21361918
GTintergenicDe novo--Yuen2017 G
RPS6KA3     AU4103301chrX:
20590713-20590744
ATATATATATATATATTTTTTTTTTTTTTTTTATintergenicDe novo--Yuen2017 G
RPS6KA3     7-0253-005chrX:
20590723-20590747
ATATATTTTTTTTTTTTTTTTTTTTATintergenicDe novo--Yuen2017 G
RPS6KA3     1-0675-003chrX:
21057548-21057565
CACACACACACACACAGACAintergenicDe novo--Yuen2017 G
RPS6KA3     AU079605chrX:
20691962-20691973
TTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTintergenicDe novo--Yuen2017 G
RPS6KA3     Uddin2014:10chrX:
20193403-20193403
GCexonicDe novostopgainNM_004586c.C1106Gp.S369X37.0-Uddin2014 E
RPS6KA3     AU4060306chrX:
20243349-20243384
TTTTTTTTTTTTGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTintronicDe novo--Yuen2017 G
RPS6KA3     AU073005chrX:
21057548-21057565
CACACACACACACACAGACAintergenicDe novo--Yuen2017 G
RPS6KA3     1-0125-003chrX:
20878053-20878053
AGintergenicDe novo--Yuen2017 G
RPS6KA3     5-0109-003chrX:
20692107-20692108
CTCTTTintergenicDe novo--Yuen2017 G
RPS6KA3     AU072505chrX:
20590696-20590715
TATATATATATATATATATATATATATATATATATATATACACATATATATATATATATATAintergenicDe novo--Yuen2017 G
RPS6KA3     AU3727302chrX:
21057556-21057567
CACACACAGAGACAintergenicDe novo--Yuen2017 G
RPS6KA3     AU3900302chrX:
20367289-20367289
CTintergenicDe novo--Yuen2017 G
RPS6KA3     AU073006chrX:
21057548-21057565
CACACACACACACACAGACAintergenicDe novo--Yuen2017 G
RPS6KA3     2-0142-003chrX:
21067235-21067235
TCintergenicDe novo--Yuen2017 G
RPS6KA3     1-0215-006chrX:
20590713-20590747
ATATATATATATATATTTTTTTTTTTTTTTTTTTTATintergenicDe novo--Yuen2017 G
RPS6KA3     AU4070301chrX:
20903299-20903305
GTTTTTTGTTTTTTTintergenicDe novo--Yuen2017 G
RPS6KA3     7-0149-003chrX:
21390652-21390671
CACATATATACATATATACACACATATATACAintergenicDe novo--Yuen2017 G
RPS6KA3     13222.p1chrX:
20193403-20193403
GCexonicDe novostopgainNM_004586c.C1106Gp.S369X37.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Wilfert2021 G
Willsey2013 E
RPS6KA3     AU4093301chrX:
20874098-20874098
ACintergenicDe novo--Yuen2017 G
RPS6KA3     AU3713301chrX:
20590723-20590747
ATATATTTTTTTTTTTTTTTTTTTTATintergenicDe novo--Yuen2017 G
RPS6KA3     AU3727303chrX:
21057556-21057567
CACACACAGAGACAintergenicDe novo--Yuen2017 G
RPS6KA3     1-0567-004chrX:
20447184-20447184
GAintergenicDe novo--Yuen2017 G
RPS6KA3     2-1346-003chrX:
20334374-20334374
CTintergenicDe novo--Yuen2017 G
RPS6KA3     AU1940304chrX:
21057552-21057565
CACACACACACAGACAintergenicDe novo--Yuen2017 G
RPS6KA3     AU003406chrX:
20520031-20520031
AGintergenicDe novo--Yuen2017 G
RPS6KA3     AU2485305chrX:
20692137-20692152
CTCTCTCTGTCTCTCTCTCTCTCTintergenicDe novo--Yuen2017 G
RPS6KA3     7-0044-003chrX:
20694528-20694532
TCAAATintergenicDe novo--Yuen2017 G
RPS6KA3     AU3680301chrX:
21081881-21081888
GTTTTTTTGTTTTTTTTintergenicDe 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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