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Results for "TOPBP1"

Variant Events: 16

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
TOPBP1     2-1425-004chr3:
133450092-133450092
CTintergenicDe novo--Yuen2017 G
TOPBP1     11367.p1chr3:
133335711-133335711
GAexonicMosaicnonsynonymous SNVNM_007027c.C3818Tp.S1273L34.0-Dou2017 E
TOPBP1     AU2951303chr3:
133336228-133336228
CGintronicDe novo--Yuen2017 G
TOPBP1     AU024004chr3:
133457260-133457260
CTintergenicDe novo--Yuen2017 G
TOPBP1     AU4012302chr3:
133340333-133340333
CTintronicDe novo--Yuen2017 G
TOPBP1     7-0059-003chr3:
133430372-133430372
AGintergenicDe novo--Yuen2017 G
TOPBP1     AU2951302chr3:
133336228-133336228
CGintronicDe novo--Yuen2017 G
TOPBP1     2-1163-003chr3:
133334548-133334548
ACintronicDe novo--Yuen2016 G
Yuen2017 G
TOPBP1     1-0483-003chr3:
133372232-133372234
CATCexonicDe novoframeshift deletionNM_007027c.877_878delp.M293fs--Yuen2016 G
TOPBP1     2-1366-003chr3:
133435778-133435778
GAintergenicDe novo--Yuen2017 G
TOPBP1     2-0102-004chr3:
133328778-133328779
CACintronicDe novo--Yuen2017 G
TOPBP1     AU4027306chr3:
133335257-133335257
TCintronicDe novo--Yuen2017 G
TOPBP1     5-0041-003chr3:
133343146-133343146
CAintronicDe novo--Yuen2017 G
TOPBP1     PN400128chr3:
133336016-133336016
GAexonicDe novosynonymous SNVNM_007027c.C3747Tp.H1249H--Leblond2019 E
TOPBP1     2-0063-003chr3:
133352464-133352464
CTintronicDe novo--Yuen2017 G
TOPBP1     AU070703chr3:
133410307-133410307
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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