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Results for "NEK1"

Variant Events: 10

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
NEK1     iHART1894chr4:
170509870-170509870
GAexonicUnknownstopgainNM_001199400
NM_012224
NM_001199397
NM_001199398
NM_001199399
c.C481T
c.C481T
c.C481T
c.C481T
c.C481T
p.R161X
p.R161X
p.R161X
p.R161X
p.R161X
43.02.0E-4Ruzzo2019 G
NEK1     2-0033-003chr4:
170345666-170345666
CTintronicDe novo-1.908E-5Yuen2016 G
Yuen2017 G
NEK1     AU3782302chr4:
170324800-170324800
TCintronicDe novo--Yuen2017 G
NEK1     2-1436-003chr4:
170396681-170396681
GCintronicDe novo--Yuen2017 G
NEK1     7-0059-003chr4:
170529931-170529931
CTintronicDe novo--Yuen2017 G
NEK1     Kim2020:B11chr4:
170523693-170523693
TCexonicDe novononsynonymous SNVNM_001199400
NM_012224
NM_001199397
NM_001199398
NM_001199399
c.A89G
c.A89G
c.A89G
c.A89G
c.A89G
p.Y30C
p.Y30C
p.Y30C
p.Y30C
p.Y30C
18.4-Kim2020 E
NEK1     iHART1891chr4:
170509870-170509870
GAexonicUnknownstopgainNM_001199400
NM_012224
NM_001199397
NM_001199398
NM_001199399
c.C481T
c.C481T
c.C481T
c.C481T
c.C481T
p.R161X
p.R161X
p.R161X
p.R161X
p.R161X
43.02.0E-4Ruzzo2019 G
NEK1     AU4015302chr4:
170462664-170462664
CAintronicDe novo--Yuen2017 G
NEK1     2-1254-003chr4:
170428888-170428888
CTexonicPaternalnonsynonymous SNVNM_001199399
NM_001199400
NM_012224
NM_001199398
NM_001199397
c.G1598A
c.G1673A
c.G1805A
c.G1757A
c.G1889A
p.R533H
p.R558H
p.R602H
p.R586H
p.R630H
15.534.99E-5Yuen2016 G
NEK1     AU2569301chr4:
170517428-170517428
CGintronicDe 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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