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Results for "RBM26"

Variant Events: 11

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
RBM26     1068012chr13:
79929382-79929382
GCexonicDe novosynonymous SNVNM_001286631
NM_001286632
NM_022118
c.C1842G
c.C1827G
c.C1827G
p.T614T
p.T609T
p.T609T
--Satterstrom2020 E
RBM26     2-1137-003chr13:
79915038-79915038
GTintronicDe novo--Yuen2017 G
RBM26     2-1341-004chr13:
79923670-79923670
GAintronicDe novo--Yuen2017 G
RBM26     AU2035302chr13:
79912837-79912837
TCintronicDe novo--Yuen2017 G
RBM26     AU3695303chr13:
79903227-79903227
CTintronicDe novo--Yuen2017 G
RBM26     MT_109chr13:
79916801-79916801
GCexonicMaternalnonsynonymous SNVNM_001286632
NM_022118
NM_001286631
c.C2353G
c.C2344G
c.C2431G
p.Q785E
p.Q782E
p.Q811E
15.681.649E-5Toma2013 E
RBM26     2-0307-004chr13:
79955263-79955263
CCTATintronicDe novo--Yuen2017 G
RBM26     AU2035301chr13:
79912837-79912837
TCintronicDe novo--Yuen2017 G
RBM26     AU3680302chr13:
79970464-79970464
AGintronicDe novo--Yuen2017 G
RBM26     2-0307-003chr13:
79955263-79955263
CCTATintronicDe novo--Yuen2017 G
RBM26     2-1317-003chr13:
79942627-79942627
GTintronicDe novo--Yuen2016 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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