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Results for "UBN2"

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
UBN2     12950.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_173569
NM_173569
c.3190_3193del
c.3189_3192del
p.S1064fs
p.P1063fs
--Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G
Willsey2013 E
UBN2     Stessman2017:ASD_1523chr7:
138916607-138916609
CGGCGCGGexonicUnknownframeshift insertionNM_173569c.376_377insCGp.T126fs--Stessman2017 T
UBN2     M20559chr7:
138954240-138954240
CTexonicPaternalnonsynonymous SNVNM_173569c.C1567Tp.R523C34.0-Stessman2017 T
UBN2     M20280chr7:
138967975-138967975
CTexonicUnknownnonsynonymous SNVNM_173569c.C2324Tp.A775V23.84.14E-5Stessman2017 T
UBN2     2-0057-004chr7:
138958062-138958062
CTexonicDe novostopgainNM_173569c.C1735Tp.R579X39.08.32E-6Yuen2017 G
UBN2     09C84554chr7:
138966823-138966823
AGintronicDe novo-4.143E-5Kosmicki2017 E
Satterstrom2020 E
UBN2     AU3057301chr7:
138956481-138956481
GAintronicDe novo--Yuen2017 G
UBN2     M13290chr7:
138954177-138954177
CGexonicUnknownnonsynonymous SNVNM_173569c.C1504Gp.R502G26.7-Stessman2017 T
UBN2     5-0065-003chr7:
138917225-138917225
AGintronicDe novo--Yuen2017 G
UBN2     09C83077chr7:
138967816-138967816
CGexonicDe novononsynonymous SNVNM_173569c.C2165Gp.A722G0.024-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Source Variant Information

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Paper Information
Title
Authors
Technology
Variant source
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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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