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Results for "UTP20"

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
UTP20     1-0203-004chr12:
101720461-101720461
AGintronicDe novo--Yuen2017 G
UTP20     13092.p1chr12:
101699737-101699737
AGexonicDe novononsynonymous SNVNM_014503c.A1826Gp.Y609C19.69-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
UTP20     SSC06524chr12:
101699737-101699737
AGexonicDe novononsynonymous SNVNM_014503c.A1826Gp.Y609C19.69-Lim2017 E
UTP20     2-1114-003chr12:
101685603-101685603
ACexonicDe novosynonymous SNVNM_014503c.A975Cp.T325T--Yuen2017 G
UTP20     2-1302-003chr12:
101715828-101715828
GAintronicDe novo--Yuen2017 G
UTP20     1-0201-005chr12:
101733117-101733117
TTAintronicDe novo--Yuen2017 G
UTP20     1-0112-003chr12:
101676361-101676361
CTintronicDe novo--Yuen2017 G
UTP20     2-1581-003chr12:
101710367-101710374
CTAAGCTACintronicDe novo--Yuen2017 G
UTP20     11044.p1chr12:
101763666-101763666
CTexonicMosaicsynonymous SNVNM_014503c.C6552Tp.F2184F--Dou2017 E
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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