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Results for "RPS6KB2"

Variant Events: 14

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
RPS6KB2     A2chr11:
67200863-67200863		GAexonicDe novononsynonymous SNVNM_003952c.G851Ap.G284D14.118.293E-6Wu2018 G
RPS6KB2     A29chr11:
67201739-67201739		CTexonicDe novononsynonymous SNVNM_003952c.C1040Tp.P347L26.88.289E-6Wu2018 G
RPS6KB2     SP0124601chr11:
67195925-67195925		CGupstreamDe novo--Fu2022 E
RPS6KB2     A29chr11:
67200076-67200076		GAexonicDe novononsynonymous SNVNM_003952c.G463Ap.E155K35.0-Wu2018 G
RPS6KB2     SP0129240chr11:
67196427-67196427		GAintronicDe novo20.2-Fu2022 E
RPS6KB2     JASD_Fam0011chr11:
67198951-67198951		GAexonicDe novononsynonymous SNVNM_003952c.G422Ap.G141D16.85-Takata2018 E
RPS6KB2     SSC05709chr11:
67200123-67200123		GTexonicDe novosynonymous SNVNM_003952c.G510Tp.T170T9.902-Fu2022 E
Lim2017 E
RPS6KB2     12939.p1chr11:
67200123-67200123		GTexonicDe novosynonymous SNVNM_003952c.G510Tp.T170T9.902-Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
RPS6KB2     Li2017:20562chr11:
67200668-67200668		AACGACATGCTCACTGGATexonicUnknownframeshift insertionNM_003952c.779_780insCGACATGCTCACTGGATp.Y260fs--Li2017 T
RPS6KB2     Li2017:36chr11:
67200076-67200076		GAexonicUnknownnonsynonymous SNVNM_003952c.G463Ap.E155K35.0-Li2017 T
RPS6KB2     Li2017:36chr11:
67201739-67201739		CTexonicUnknownnonsynonymous SNVNM_003952c.C1040Tp.P347L26.88.289E-6Li2017 T
RPS6KB2     Li2017:18337chr11:
67201491-67201491		GAexonicUnknownnonsynonymous SNVNM_003952c.G932Ap.R311Q23.78.326E-6Li2017 T
RPS6KB2     Li2017:23240chr11:
67202146-67202154		AGCCCCCGGAexonicUnknownframeshift deletionNM_003952c.1250_1257delp.S417fs-6.146E-5Li2017 T
RPS6KB2     A11chr11:
67201717-67201717		CTexonicDe novononsynonymous SNVNM_003952c.C1018Tp.R340C12.974.142E-5Wu2018 G
Source Variant Information

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Paper alias:

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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.
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