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Results for "IRF2"

Variant Events: 15

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
IRF2     1-0051-004chr4:
185338605-185338605
TCintronicDe novo--Yuen2017 G
IRF2     AU3638302chr4:
185440556-185440562
CTTCTTTCTTintergenicDe novo--Yuen2017 G
IRF2     AU011604chr4:
185381425-185381425
CTintronicDe novo--Yuen2017 G
IRF2     2-1730-003chr4:
185384029-185384029
CTintronicDe novo--Yuen2017 G
IRF2     2-0012-003chr4:
185411143-185411143
AGintergenicDe novo--Yuen2017 G
IRF2     2-1356-003chr4:
185372031-185372031
AGintronicDe novo--Yuen2016 G
Yuen2017 G
IRF2     2-1561-003chr4:
185354571-185354571
CTintronicDe novo--Yuen2017 G
IRF2     2-1128-003chr4:
185400507-185400507
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
IRF2     Chen2017:99chr4:
185320175-185320175
CTexonicDe novosynonymous SNVNM_002199c.G588Ap.P196P7.5982.0E-4Chen2017 E
IRF2     1-0305-004chr4:
185483643-185483643
CGintergenicDe novo--Yuen2017 G
IRF2     AU3915301chr4:
185396511-185396511
GAupstreamDe novo--Yuen2017 G
IRF2     2-1501-003chr4:
185439452-185439452
TCintergenicDe novo--Yuen2017 G
IRF2     2-1502-003chr4:
185479863-185479863
TCintergenicDe novo--Yuen2017 G
IRF2     200675654@1082034197chr4:
185320175-185320175
CTexonicDe novosynonymous SNVNM_002199c.G588Ap.P196P7.5982.0E-4Satterstrom2020 E
IRF2     AU4246304chr4:
185450421-185450421
CTintergenicDe novo--Yuen2017 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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