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Results for "TOP3B"

Variant Events: 25

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
TOP3B     12323.p1chr22:
22312975-22312975
AGexonicMosaic, De novononsynonymous SNVNM_001282112
NM_001282113
NM_003935
c.T1996C
c.T1996C
c.T1996C
p.C666R
p.C666R
p.C666R
27.6-Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
TOP3B     A16chr22:
22470886-22470886
CTintergenicDe novo--Wu2018 G
TOP3B     AU2108302chr22:
22545296-22545296
AGintergenicDe novo--Yuen2017 G
TOP3B     08C74148chr22:
22385729-22385729
AGintergenicDe novo-8.282E-6Satterstrom2020 E
TOP3B     1-0490-003chr22:
22344329-22344329
CTintergenicDe novo--Yuen2017 G
TOP3B     HI4256chr22:
22453410-22453410
ACintergenicDe novo--Satterstrom2020 E
TOP3B     08C76114chr22:
22385750-22385750
ACintergenicDe novo-8.283E-6Satterstrom2020 E
TOP3B     1-0025-004chr22:
22535994-22535994
TCintergenicDe novo--Yuen2017 G
TOP3B     1-0025-006chr22:
22350286-22350286
GAintergenicDe novo--Yuen2017 G
TOP3B     08C76155chr22:
22550670-22550670
GAintergenicDe novo-8.351E-6Satterstrom2020 E
TOP3B     1006011chr22:
22385812-22385812
AGintergenicDe novo--Satterstrom2020 E
TOP3B     AU059903chr22:
22316351-22316351
TGintronicDe novo--Yuen2017 G
TOP3B     AU059903chr22:
22316356-22316356
AGintronicDe novo--Yuen2017 G
TOP3B     10C117850chr22:
22385540-22385540
ATintergenicDe novo--Kosmicki2017 E
TOP3B     10C117850chr22:
22550484-22550484
AGintergenicDe novo--Kosmicki2017 E
TOP3B     AU3903302chr22:
22550757-22550757
AGintergenicDe novo--Yuen2017 G
TOP3B     10C117850chr22:
22550490-22550490
AGintergenicDe novo-1.664E-5Kosmicki2017 E
TOP3B     10C117850chr22:
22550507-22550507
AGintergenicDe novo--Kosmicki2017 E
TOP3B     14372.p1chr22:
22328718-22328719
GAGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
TOP3B     10C117850chr22:
22550525-22550525
ACintergenicDe novo-8.285E-6Kosmicki2017 E
TOP3B     10C117850chr22:
22550532-22550532
AGintergenicDe novo--Kosmicki2017 E
TOP3B     10C117850chr22:
22550537-22550537
ATintergenicDe novo--Kosmicki2017 E
TOP3B     2-1338-003chr22:
22560987-22560987
TCintergenicDe novo--Yuen2017 G
TOP3B     08C74483chr22:
22550361-22550361
TCintergenicDe novo--Satterstrom2020 E
TOP3B     AU3724301 Complex Event; expand row to view variants  De novo--Yuen2017 G
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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