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Results for "KLF5"

Variant Events: 23

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
KLF5     2-1434-003chr13:
73815971-73815971
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
KLF5     AU061003chr13:
73984939-73984939
ATintergenicDe novo--Yuen2017 G
KLF5     1-0126-003chr13:
73761215-73761215
TTACintergenicDe novo--Yuen2017 G
KLF5     1-0181-004chr13:
74007455-74007455
AGintergenicDe novo--Yuen2017 G
KLF5     SP0022669chr13:
73649881-73649881
GAexonicDe novononsynonymous SNVNM_001286818
NM_001730
c.G958A
c.G1231A
p.D320N
p.D411N
24.62.48E-5Feliciano2019 E
KLF5     AU3398301chr13:
73701055-73701056
ATAintergenicDe novo--Yuen2017 G
KLF5     13324.p1chr13:
73651604-73651604
ACUTR3De novo--Turner2016 G
KLF5     2-1368-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
KLF5     1-0541-003chr13:
73792487-73792487
CTintergenicDe novo--Yuen2017 G
KLF5     2-0503-003chr13:
73836370-73836370
ATintergenicDe novo--Yuen2017 G
KLF5     7-0067-003chr13:
74054896-74054896
TCintergenicDe novo--Yuen2017 G
KLF5     12591.p1chr13:
73636482-73636482
AGexonicDe novononsynonymous SNVNM_001286818
NM_001730
c.A472G
c.A745G
p.M158V
p.M249V
11.550.0018Iossifov2014 E
Ji2016 E
Kosmicki2017 E
KLF5     AU4228302chr13:
73917334-73917334
GTintergenicDe novo--Yuen2017 G
KLF5     AU4032307chr13:
73765200-73765200
CTintergenicDe novo--Yuen2017 G
KLF5     2-1322-003chr13:
73770946-73770946
TAintergenicDe novo--Yuen2017 G
KLF5     2-0503-004chr13:
73836370-73836370
ATintergenicDe novo--Yuen2017 G
KLF5     AU1987301chr13:
74031972-74031972
GAintergenicDe novo--Yuen2017 G
KLF5     2-1134-003chr13:
73771963-73771963
CAintergenicDe novo--Yuen2017 G
KLF5     2-1696-003chr13:
73958759-73958759
CAintergenicDe novo--Yuen2017 G
KLF5     2-1406-003chr13:
73743557-73743557
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
KLF5     7-0024-003chr13:
73761219-73761219
TTATACintergenicDe novo--Yuen2017 G
KLF5     AU3343301chr13:
73937347-73937347
ACintergenicDe novo--Yuen2017 G
KLF5     AU4215302chr13:
73843604-73843604
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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