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Results for "RUBCN"

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
RUBCN     06.s1chr3:
197421312-197421312
GAexonicDe novononsynonymous SNVNM_014687
NM_001145642
c.C1618T
c.C1483T
p.R540C
p.R495C
32.0-An2014 E
RUBCN     MT_160chr3:
197409416-197409416
CTexonicPaternalnonsynonymous SNVNM_014687
NM_001145642
c.G2051A
c.G1916A
p.R684Q
p.R639Q
29.03.318E-5Toma2013 E
RUBCN     AU011903chr3:
197439242-197439242
CTintronicDe novo--Yuen2017 G
RUBCN     7-0256-003chr3:
197472492-197472492
ACintronicDe novo--Yuen2017 G
RUBCN     5-0017-004chr3:
197397804-197397806
CAGCdownstreamDe novo--Yuen2017 G
RUBCN     12302.p1chr3:
197401354-197401354
GTUTR3De novo--Iossifov2014 E
Kosmicki2017 E
RUBCN     13399.p1 Complex Event; expand row to view variants  De novo--Iossifov2014 E
Iossifov2014 E
Kosmicki2017 E
Kosmicki2017 E
RUBCN     13254.p1chr3:
197428000-197428001
AGAexonicDe novoframeshift deletionNM_001145642
NM_014687
c.564delC
c.744delC
p.S188fs
p.S248fs
--Wilfert2021 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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