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Results for "CENPF"

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
CENPF     1-0486-003chr1:
215012949-215012949
CGintergenicDe novo--Yuen2017 G
CENPF     MSSNG00002-004chr1:
214831325-214831325
CAintronicDe novo--Trost2022 G
CENPF     4-0095-003chr1:
214829554-214829554
CTintronicDe novo--Trost2022 G
CENPF     1-0590-003chr1:
214966018-214966018
ATintergenicDe novo--Yuen2017 G
CENPF     mAGRE1433chr1:
214830459-214830459
CGexonicMaternalstopgainNM_016343c.C8669Gp.S2890X49.0-Cirnigliaro2023 G
CENPF     5-0091-003chr1:
214838742-214838742
TCdownstreamDe novo--Trost2022 G
CENPF     mAGRE4736chr1:
214819875-214819875
TTAexonicMaternalframeshift insertionNM_016343c.6963dupAp.L2321fs--Cirnigliaro2023 G
CENPF     AU2415301chr1:
214777159-214777159
CAintronicDe novo--Trost2022 G
CENPF     mAGRE4773chr1:
214791992-214791992
CTexonicPaternalstopgainNM_016343c.C436Tp.Q146X38.01.649E-5Cirnigliaro2023 G
CENPF     1-0522-003chr1:
215115913-215115913
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
CENPF     2-1154-003chr1:
215096621-215096621
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
CENPF     AU2310301chr1:
214823151-214823151
CTintronicDe novo--Trost2022 G
CENPF     SP0245842chr1:
214813492-214813492
TTAexonicDe novoframeshift insertionNM_016343c.1812dupAp.L604fs--Trost2022 G
CENPF     SSC07028chr1:
214819588-214819588
GGTexonicDe novoframeshift insertionNM_016343c.6676dupTp.Q2225fs--Fu2022 E
CENPF     AU012804chr1:
215061637-215061637
CAintergenicDe novo--Yuen2017 G
CENPF     AU3764302chr1:
215124428-215124428
GTintergenicDe novo--Yuen2017 G
CENPF     SP0028603chr1:
214819465-214819465
AGexonicDe novosynonymous SNVNM_016343c.A6552Gp.V2184V--Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
CENPF     7-0068-003chr1:
215082731-215082731
TCintergenicDe novo--Yuen2017 G
CENPF     SP0085701chr1:
214825033-214825033
TAintronicDe novo--Fu2022 E
Trost2022 G
CENPF     A18chr1:
215032666-215032666
CGintergenicDe novo--Wu2018 G
CENPF     AU065807chr1:
214897819-214897819
TCintergenicDe novo--Yuen2017 G
CENPF     AU2793301chr1:
214886589-214886589
TCintergenicDe novo--Yuen2017 G
CENPF     1-0278-003chr1:
215061652-215061652
CAintergenicDe novo--Yuen2016 G
CENPF     1-0344-003chr1:
214957057-214957057
CAintergenicDe novo--Yuen2017 G
CENPF     AU050603chr1:
214946910-214946910
CAintergenicDe 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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