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Results for "ITGA2"

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
ITGA2     12430.p1chr5:
52340901-52340901
CTexonicDe novosynonymous SNVNM_002203c.C366Tp.N122N--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
ITGA2     14181.p1chr5:
52386413-52386414
CACexonicDe novoframeshift deletionNM_002203c.3531delAp.T1177fs--Satterstrom2020 E
ITGA2     1-0191-003chr5:
52294376-52294376
TCintronicDe novo--Yuen2017 G
ITGA2     3-0434-000chr5:
52370799-52370799
GTintronicDe novo--Yuen2016 G
Yuen2017 G
ITGA2     Lim2017:5315chr5:
52340901-52340901
CTexonicDe novosynonymous SNVNM_002203c.C366Tp.N122N--Lim2017 E
ITGA2     2-1182-003chr5:
52327117-52327117
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ITGA2     AU008505chr5:
52296077-52296077
AGintronicDe novo--Yuen2017 G
ITGA2     AU3371305chr5:
52317560-52317560
AGintronicDe novo--Yuen2017 G
ITGA2     AU3861302chr5:
52373473-52373473
CGintronicDe novo--Yuen2017 G
ITGA2     AU4032306chr5:
52313235-52313235
GAintronicDe 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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