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Results for "CDK9"

Variant Events: 8

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
CDK9     mAGRE2111chr9:
130551566-130551566
CTexonicDe novononsynonymous SNVNM_001261c.C863Tp.A288V31.0-Cirnigliaro2023 G
CDK9     2-1112-003chr9:
130556931-130556931
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CDK9     SP0139811chr9:
130550933-130550933
GAexonicDe novononsynonymous SNVNM_001261c.G715Ap.A239T11.82-Fu2022 E
Trost2022 G
Zhou2022 GE
CDK9     JASD_Fam0010chr9:
130549061-130549061
GCexonicDe novosynonymous SNVNM_001261c.G174Cp.G58G--Takata2018 E
CDK9     iHART2111chr9:
130551566-130551566
CTexonicDe novononsynonymous SNVNM_001261c.C863Tp.A288V31.0-Ruzzo2019 G
CDK9     05HI4255Achr9:
130549867-130549867
TGexonicDe novononsynonymous SNVNM_001261c.T245Gp.I82S15.25-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CDK9     SSC04138chr9:
130549918-130549918
CTintronicDe novo-8.261E-6Trost2022 G
CDK9     12046.p1chr9:
130549918-130549918
CTintronicDe novo-8.261E-6Satterstrom2020 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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