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Results for "ITGB3"

Variant Events: 6

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
ITGB3       DEASD_0280_001chr17:
45369819-45369819
CTexonicDe novosynonymous SNVNM_000212c.C1575Tp.G525G-8.319E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ITGB3       PN400417chr17:
45362013-45362014
CACexonicUnknownframeshift deletionNM_000212c.567delAp.P189fs-8.237E-6Leblond2019 E
ITGB3       AU4199303chr17:
45379326-45379326
AGintronicDe novo--Yuen2017 G
ITGB3       iHART1565chr17:
45363625-45363625
GCsplicingPaternalsplicing16.12-Ruzzo2019 G
ITGB3       iHART1048chr17:
45360758-45360758
GGAexonicMaternalframeshift insertionNM_000212c.205dupAp.E68fs-8.239E-6Ruzzo2019 G
ITGB3       13815.p1chr17:
45368327-45368327
GAexonicMosaic Pat., De novononsynonymous SNVNM_000212c.G1133Ap.R378H24.22.471E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 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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