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Results for "MPO"

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
MPO     iHART2396chr17:
56356732-56356732
CAexonicMaternalstopgainNM_000250c.G604Tp.E202X35.01.0E-4Ruzzo2019 G
MPO     224-08-109968chr17:
56356591-56356591
ATintronicDe novo--Satterstrom2020 E
MPO     AU4093304chr17:
56361395-56361400
CAGAGACAGAintergenicDe novo--Yuen2017 G
MPO     AU054304chr17:
56348886-56348886
TCintronicDe novo--Yuen2017 G
MPO     11734.p1chr17:
56349101-56349106
CGGACACexonicDe novoframeshift deletionNM_000250c.1940_1944delp.V647fs--Ji2016 E
MPO     AU1308303chr17:
56373891-56373891
ACintergenicDe novo--Yuen2017 G
MPO     SSC05168chr17:
56356401-56356401
ACexonicDe novononsynonymous SNVNM_000250c.T853Gp.C285G25.2-Lim2017 E
MPO     09C84008chr17:
56353059-56353059
GTexonicDe novononsynonymous SNVNM_000250c.C1209Ap.D403E18.7-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MPO     12360.p1chr17:
56356401-56356401
ACexonicMosaic, De novononsynonymous SNVNM_000250c.T853Gp.C285G25.2-Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
MPO     1-0404-003chr17:
56359537-56359537
CAintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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