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Results for "MSI2"

Variant Events: 21

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
MSI2     1-0458-004chr17:
55807832-55807832
GAintergenicDe novo--Yuen2017 G
MSI2     AU3907301 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
MSI2     AU3811305chr17:
55783712-55783712
AGintergenicDe novo--Yuen2017 G
MSI2     AU4072303chr17:
55391232-55391232
TCintronicDe novo--Yuen2017 G
MSI2     1-0751-003chr17:
55570653-55570653
CTintronicDe novo--Yuen2017 G
MSI2     7-0219-003chr17:
55417000-55417000
CGintronicDe novo--Yuen2017 G
MSI2     AU4219302chr17:
55676567-55676567
TCintronicDe novo--Yuen2017 G
MSI2     14390.p1chr17:
55419552-55419552
TCintronicDe novo--Wilfert2021 G
MSI2     2-1730-003chr17:
55471124-55471124
CGintronicDe novo--Yuen2017 G
MSI2     5-0133-003chr17:
55731197-55731197
CTintronicDe novo--Yuen2017 G
MSI2     1-0541-004chr17:
55458988-55458998
CTCATCTTAATCintronicDe novo--Yuen2017 G
MSI2     2-1359-004chr17:
55394594-55394594
GAintronicDe novo--Yuen2017 G
MSI2     1-0004-003chr17:
55591418-55591418
ATintronicDe novo--Yuen2017 G
MSI2     1-0226-005chr17:
55510440-55510445
CACCATCintronicDe novo--Yuen2017 G
MSI2     1-0481-003chr17:
55780573-55780573
TAintergenicDe novo--Yuen2017 G
MSI2     AU072004chr17:
55550452-55550452
CTintronicDe novo--Yuen2017 G
MSI2     1-0541-003chr17:
55458988-55458998
CTCATCTTAATCintronicDe novo--Yuen2017 G
MSI2     AU3175303chr17:
55757475-55757475
CTdownstreamDe novo--Yuen2017 G
MSI2     AU017304chr17:
55612998-55612998
GAintronicDe novo--Yuen2017 G
MSI2     74-0075chr17:
55428701-55428701
GAintronicDe novo--Michaelson2012 G
MSI2     2-0503-004chr17:
55463996-55463996
CTintronicDe 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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