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Results for "CENPF"

Variant Events: 14

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     1-0590-003chr1:
214966018-214966018
ATintergenicDe novo--Yuen2017 G
CENPF     1-0522-003chr1:
215115913-215115913
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
CENPF     AU3764302chr1:
215124428-215124428
GTintergenicDe novo--Yuen2017 G
CENPF     2-1154-003chr1:
215096621-215096621
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
CENPF     SP0028603chr1:
214819465-214819465
AGexonicDe novosynonymous SNVNM_016343c.A6552Gp.V2184V--Feliciano2019 E
CENPF     7-0068-003chr1:
215082731-215082731
TCintergenicDe novo--Yuen2017 G
CENPF     A18chr1:
215032666-215032666
CGintergenicDe novo--Wu2018 G
CENPF     AU065807chr1:
214897819-214897819
TCintergenicDe novo--Yuen2017 G
CENPF     AU012804chr1:
215061637-215061637
CAintergenicDe 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:

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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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