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Results for "SPSB1"

Variant Events: 14

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
SPSB1     2-1364-003chr1:
9415718-9415718
GAintronicDe novo--Yuen2017 G
SPSB1     2-0158-003chr1:
9416259-9416259
GAexonicDe novosynonymous SNVNM_025106c.G309Ap.T103T-0.0018Yuen2017 G
SPSB1     1-0285-003chr1:
9436294-9436294
CAintergenicDe novo--Yuen2017 G
SPSB1     AU011604chr1:
9412310-9412310
GAintronicDe novo--Yuen2017 G
SPSB1     AU024105chr1:
9408072-9408072
CTintronicDe novo--Yuen2017 G
SPSB1     AU1987302chr1:
9384482-9384482
CTintronicDe novo--Yuen2017 G
SPSB1     1-0683-003chr1:
9428807-9428807
GAUTR3De novo--Yuen2017 G
SPSB1     1-0627-005chr1:
9460451-9460451
CTintergenicDe novo--Yuen2017 G
SPSB1     AU4211304chr1:
9452578-9452578
GAintergenicDe novo--Yuen2017 G
SPSB1     SSC03637chr1:
9427536-9427536
CTexonicDe novononsynonymous SNVNM_025106c.C724Tp.R242C24.4-Lim2017 E
SPSB1     11963.p1chr1:
9427536-9427536
CTexonicDe novononsynonymous SNVNM_025106c.C724Tp.R242C24.4-Ji2016 E
Krumm2015 E
Satterstrom2020 E
SPSB1     1-0006-004chr1:
9414590-9414590
ACintronicDe novo--Yuen2017 G
SPSB1     1-0914-003chr1:
9422774-9422774
CAintronicDe novo--Yuen2017 G
SPSB1     2-1237-003chr1:
9409062-9409062
GAintronicDe 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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