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Results for "ARID3B"

Variant Events: 9

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
ARID3B     PN400115chr15:
74884098-74884098
CGexonicUnknownnonsynonymous SNVNM_001307939
NM_006465
c.C1363G
c.C1363G
p.R455G
p.R455G
31.0-Leblond2019 E
ARID3B     AU4215302chr15:
74848930-74848930
ACintronicDe novo--Yuen2017 G
ARID3B     Li2017:42 Complex Event; expand row to view variants  Unknownframeshift insertionNM_001307939
NM_006465
NM_001307939
NM_006465
c.39_40insG
c.39_40insG
c.38_39insGC
c.38_39insGC
p.Q13fs
p.Q13fs
p.Q13fs
p.Q13fs
-2.907E-5Li2017 T
Li2017 T
ARID3B     PN400215chr15:
74884098-74884098
CGexonicUnknownnonsynonymous SNVNM_001307939
NM_006465
c.C1363G
c.C1363G
p.R455G
p.R455G
31.0-Leblond2019 E
ARID3B     Li2017:19625chr15:
74836316-74836316
AAGCAGexonicUnknownframeshift insertionNM_001307939
NM_006465
c.39_40insGCAG
c.39_40insGCAG
p.Q13fs
p.Q13fs
--Li2017 T
ARID3B     A25 Complex Event; expand row to view variants  De novoframeshift insertionNM_001307939
NM_006465
NM_001307939
NM_006465
c.38_39insGC
c.38_39insGC
c.39_40insG
c.39_40insG
p.Q13fs
p.Q13fs
p.Q13fs
p.Q13fs
-2.907E-5Wu2018 G
Wu2018 G
ARID3B     AU072905chr15:
74809032-74809032
CGintergenicDe novo--Yuen2017 G
ARID3B     AU1909304chr15:
74845386-74845386
CTintronicDe novo--Yuen2017 G
ARID3B     2-0110-003chr15:
74816419-74816419
TAintergenicDe novo--Yuen2016 G
Yuen2017 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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