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Results for "TPX2"

Variant Events: 13

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
TPX2     1-0440-003chr20:
30330664-30330664
AGintronicDe novo--Trost2022 G
Yuen2017 G
TPX2     09C80048chr20:
30366759-30366759
TCexonicDe novosynonymous SNVNM_012112c.T1026Cp.Y342Y-1.702E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TPX2     AU2577301chr20:
30366782-30366782
AGexonicDe novononsynonymous SNVNM_012112c.A1049Gp.D350G14.71-Trost2022 G
Zhou2022 GE
TPX2     SP0062333chr20:
30354371-30354371
AGexonicDe novononsynonymous SNVNM_012112c.A242Gp.Y81C7.4968.263E-6Fu2022 E
Trost2022 G
Zhou2022 GE
TPX2     SP0102595chr20:
30388888-30388888
ACUTR3De novo--Fu2022 E
TPX2     SP0136950chr20:
30386241-30386241
GAexonicDe novosynonymous SNVNM_012112c.G2019Ap.E673E--Fu2022 E
Zhou2022 GE
TPX2     Wang2023:813chr20:
30370163-30370163
TCexonicDe novononsynonymous SNVNM_012112c.T1166Cp.L389P14.64-Wang2023 E
TPX2     AU2250301chr20:
30382477-30382477
AGintronicDe novo--Trost2022 G
TPX2     SSC08169chr20:
30366579-30366579
TGintronicDe novo--Trost2022 G
TPX2     2-1287-003chr20:
30361157-30361157
TCCintronicDe novo--Trost2022 G
TPX2     MSSNG00430-003chr20:
30357931-30357931
GAintronicDe novo--Trost2022 G
TPX2     13543.p1chr20:
30366579-30366579
TGintronicDe novo--Satterstrom2020 E
Turner2016 G
TPX2     SMHC00813s000chr20:
30370163-30370163
TCexonicDe novononsynonymous SNVNM_012112c.T1166Cp.L389P14.64-Yuan2023 E
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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