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Results for "INO80"

Variant Events: 19

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
INO80     1-0332-003chr15:
41298286-41298286
CTintronicDe novo--Yuen2017 G
INO80     1-0257-003chr15:
41304624-41304624
CTintronicDe novo--Yuen2017 G
INO80     AU4487302chr15:
41438656-41438656
GAintergenicDe novo--Yuen2017 G
INO80     AU056803chr15:
41280071-41280071
GAexonicDe novosynonymous SNVNM_017553c.C3672Tp.L1224L-8.237E-6Yuen2017 G
INO80     1-0706-003chr15:
41378167-41378167
CGintronicDe novo--Yuen2017 G
INO80     74-0765chr15:
41384317-41384317
CGexonicInheritednonsynonymous SNVNM_017553c.G445Cp.E149Q13.392.474E-5Patowary2019 E
INO80     06C59212chr15:
41387880-41387880
CTintronicDe novo--Satterstrom2020 E
INO80     08C75098chr15:
41348905-41348905
CAsplicingDe novosplicing17.62-Satterstrom2020 E
INO80     14003.p1chr15:
41289811-41289813
GGAGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
INO80     12924.p1chr15:
41379812-41379812
CTexonicDe novosynonymous SNVNM_017553c.G606Ap.R202R-8.237E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
INO80     12175.p1chr15:
41293407-41293407
CAintronicDe novo--Turner2016 G
INO80     AU051503chr15:
41401507-41401507
CGintronicDe novo--Yuen2017 G
INO80     2-1460-003chr15:
41321961-41321961
CGintronicDe novo--Yuen2017 G
INO80     AU072005chr15:
41353263-41353263
GAintronicDe novo--Yuen2017 G
INO80     1-0368-004chr15:
41358454-41358454
GAintronicDe novo--Yuen2017 G
INO80     SSC06501chr15:
41379812-41379812
CTexonicDe novosynonymous SNVNM_017553c.G606Ap.R202R-8.237E-6Lim2017 E
INO80     5-0050-004chr15:
41439146-41439146
CTintergenicDe novo--Yuen2017 G
INO80     2-1116-003chr15:
41282859-41282859
ACintronicDe novo--Yuen2016 G
Yuen2017 G
INO80     7-0024-005chr15:
41471240-41471240
GAintergenicDe 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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