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Results for "RNF123"

Variant Events: 7

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
RNF123     2-1168-003 Complex Event; expand row to view variants  De novononframeshift deletionNM_022064
NM_022064
c.938_940del
c.943_945del
p.313_314del
p.315_315del
--Yuen2016 G
Yuen2017 G
RNF123     13177.p1chr3:
49736189-49736189
CGexonicDe novononsynonymous SNVNM_022064c.C572Gp.A191G12.981.0E-4Satterstrom2020 E
RNF123     08C73976chr3:
49737158-49737161
GTCCGexonicDe novononframeshift deletionNM_022064c.938_940delp.313_314del--Satterstrom2020 E
RNF123     UK10K_SKUSE5080170chr3:
49753101-49753101
AGexonicDe novononsynonymous SNVNM_022064c.A3104Gp.N1035S17.73-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
RNF123     12237.p1chr3:
49743440-49743440
AGexonicDe novononsynonymous SNVNM_022064c.A2330Gp.N777S13.54.943E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
RNF123     AU024606chr3:
49750019-49750019
CTexonicDe novosynonymous SNVNM_022064c.C2604Tp.S868S-1.648E-5Yuen2017 G
RNF123     AU3903302chr3:
49750512-49750512
CTintronicDe novo--Yuen2017 G
Source Variant Information

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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.
Variant event count
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