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Results for "NEK10"

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
NEK10     2-1140-003chr3:
27364165-27364165
GTintronicDe novo--Yuen2017 G
NEK10     1-0606-003chr3:
27345579-27345579
GAintronicDe novo--Yuen2017 G
NEK10     3-0169-000chr3:
27176268-27176268
CAintronicDe novo--Yuen2016 G
NEK10     2-1507-003chr3:
27216604-27216604
TCintronicDe novo--Yuen2017 G
NEK10     2-1437-003chr3:
27370087-27370087
CGintronicDe novo--Yuen2017 G
NEK10     SP0009898chr3:
27161295-27161295
TCexonicDe novononsynonymous SNVNM_001031741
NM_001304384
NM_152534
c.A1223G
c.A1253G
c.A3317G
p.H408R
p.H418R
p.H1106R
2.9351.649E-5Feliciano2019 E
NEK10     SP0029987chr3:
27233563-27233563
CTexonicDe novononsynonymous SNVNM_001031741
NM_001304384
NM_152534
c.G398A
c.G398A
c.G2462A
p.R133Q
p.R133Q
p.R821Q
25.08.237E-6Fu2022 E
NEK10     SP0058996chr3:
27337112-27337112
GCexonicDe novononsynonymous SNVNM_152534
NM_199347
c.C1300G
c.C1300G
p.L434V
p.L434V
7.89-Fu2022 E
NEK10     G01_GEA539HIchr3:
27335020-27335020
CTintronicDe novo--Fu2022 E
NEK10     SP0025074chr3:
27349379-27349382
AATCAexonicDe novononframeshift deletionNM_152534
NM_199347
c.771_773del
c.771_773del
p.257_258del
p.257_258del
--Fu2022 E
NEK10     AU3787303chr3:
27351815-27351815
CTintronicDe novo--Yuen2017 G
NEK10     SP0004093chr3:
27337137-27337137
CTexonicDe novosynonymous SNVNM_152534
NM_199347
c.G1275A
c.G1275A
p.K425K
p.K425K
--Fu2022 E
NEK10     1-0155-003chr3:
27174770-27174770
AGintronicDe novo--Yuen2017 G
NEK10     AU021204chr3:
27277359-27277359
AGintronicDe novo--Yuen2017 G
NEK10     AU3808305chr3:
27206220-27206226
AGCTGCTAGCTintronicDe novo--Yuen2017 G
NEK10     AU1995302chr3:
27374171-27374171
GAintronicDe novo--Yuen2017 G
NEK10     AU4410302chr3:
27170460-27170466
ATTTTTTATTTTTTTintronicDe novo--Yuen2017 G
NEK10     AU3398301chr3:
27185529-27185529
TCintronicDe novo--Yuen2017 G
NEK10     iHART1868chr3:
27213309-27213309
CAsplicingPaternalsplicing18.158.3E-6Ruzzo2019 G
NEK10     13997_p1chr3:
27326353-27326353
CGexonicDe novononsynonymous SNVNM_152534
NM_199347
c.G1889C
c.G1889C
p.R630T
p.R630T
11.97-Fu2022 E
NEK10     1-0520-003chr3:
27184201-27184201
ATintronicDe novo--Yuen2016 G
NEK10     60-1057chr3:
27297817-27297817
GAexonicInheritednonsynonymous SNVNM_152534
NM_199347
c.C2060T
c.C2060T
p.T687I
p.T687I
17.617.633E-5Patowary2019 E
NEK10     13997.p1chr3:
27326353-27326353
CGexonicDe novononsynonymous SNVNM_152534
NM_199347
c.G1889C
c.G1889C
p.R630T
p.R630T
11.97-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
NEK10     7-0161-003chr3:
27283742-27283742
CTintronicDe novo--Yuen2017 G
NEK10     AU2248301chr3:
27383858-27383858
GAintronicDe 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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