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Results for "RUBCN"
Variant Events: 10
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
MT_160
chr3:
197409416-197409416
C
T
exonic
Paternal
nonsynonymous SNV
NM_014687
NM_001145642
c.G2051A
c.G1916A
p.R684Q
p.R639Q
29.0
3.318E-5
Toma2013
E
RUBCN
AU011903
chr3:
197439242-197439242
C
T
intronic
De novo
-
-
Yuen2017
G
RUBCN
7-0256-003
chr3:
197472492-197472492
A
C
intronic
De novo
-
-
Yuen2017
G
RUBCN
06.s1
chr3:
197421312-197421312
G
A
exonic
De novo
nonsynonymous SNV
NM_014687
NM_001145642
c.C1618T
c.C1483T
p.R540C
p.R495C
32.0
-
An2014
E
RUBCN
SP0085699
chr3:
197407976-197407976
A
C
intronic
De novo
-
-
Fu2022
E
RUBCN
5-0017-004
chr3:
197397804-197397806
CAG
C
downstream
De novo
-
-
Yuen2017
G
RUBCN
365_19au
chr3:
197410385-197410385
A
C
intronic
De novo
-
-
Fu2022
E
RUBCN
12302.p1
chr3:
197401354-197401354
G
T
UTR3
De 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.p1
chr3:
197428000-197428001
AG
A
exonic
De novo
frameshift deletion
NM_001145642
NM_014687
c.564delC
c.744delC
p.S188fs
p.S248fs
-
-
Wilfert2021
G
Source Variant Information
?
, -
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 notes
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