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Results for "TPP1"

Variant Events: 5

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
TPP1     iHART1908chr11:
6638926-6638926
ATexonicPaternalstopgainNM_000391c.T311Ap.L104X11.558.237E-6Ruzzo2019 G
TPP1     iHART1810chr11:
6638856-6638856
CTsplicingPaternalsplicing17.58-Ruzzo2019 G
TPP1     P003chr11:
6638091-6638091
CTsplicingMaternalsplicing17.88-Long2019 ET
TPP1     2-1120-003chr11:
6639572-6639572
GGAGTintronicDe novo--Yuen2017 G
TPP1     P003chr11:
6636403-6636403
GAexonicPaternalnonsynonymous SNVNM_000391c.C1424Tp.S475L32.02.471E-5Long2019 ET
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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