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Results for "KLF9"

Variant Events: 15

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
KLF9     1-0395-004chr9:
73134462-73134462
CTintergenicDe novo--Yuen2017 G
KLF9     AU2975302chr9:
73044814-73044814
GCintergenicDe novo--Yuen2017 G
KLF9     1-0395-003chr9:
73134462-73134462
CTintergenicDe novo--Yuen2017 G
KLF9     2-0244-003chr9:
73141210-73141210
CTintergenicDe novo--Yuen2017 G
KLF9     SMHC02027s000chr9:
73002837-73002838
TGTexonicDe novoframeshift deletionNM_001206c.589delCp.H197fs--Yuan2023 E
KLF9     1-1222-003chr9:
73146547-73146547
AGintergenicDe novo--Trost2022 G
KLF9     2-1377-003chr9:
73011705-73011705
AGintronicDe novo--Trost2022 G
KLF9     2-1091-003chr9:
73024125-73024125
TCintronicDe novo--Trost2022 G
KLF9     2-1521-003chr9:
73075240-73075240
CTintergenicDe novo--Yuen2017 G
KLF9     1-0674-004chr9:
73084549-73084549
AGintergenicDe novo--Yuen2017 G
KLF9     2-1729-003chr9:
73111598-73111598
AGintergenicDe novo--Yuen2017 G
KLF9     AU3649305chr9:
73088337-73088337
CTintergenicDe novo--Yuen2017 G
KLF9     7-0012-003chr9:
73143658-73143658
GAintergenicDe novo--Trost2022 G
Yuen2017 G
KLF9     2-1384-003chr9:
73040707-73040707
TCintergenicDe novo--Yuen2017 G
KLF9     AU3263302chr9:
73145985-73145986
GCGintergenicDe novo--Trost2022 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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