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Results for "WDR26"

Variant Events: 17

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
WDR26     PN400323chr1:
224585814-224585814
CTexonicUnknownnonsynonymous SNVNM_001115113
NM_025160
c.G1711A
c.G1759A
p.A571T
p.A587T
28.15.783E-5Leblond2019 E
WDR26     AU4176302chr1:
224662184-224662184
GAintergenicDe novo--Yuen2017 G
WDR26     14015.p1chr1:
224625794-224625794
TCintergenicDe novo--Turner2016 G
WDR26     13489.p1chr1:
224612259-224612259
GAexonicMosaic, De novononsynonymous SNVNM_001115113
NM_025160
c.C677T
c.C725T
p.P226L
p.P242L
28.5-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
WDR26     HEN0088.p1chr1:
224588651-224588651
CTsplicingUnknownsplicing25.3-Wang2020 T
Wang2020 T
WDR26     JASD_Fam0093chr1:
224599157-224599157
GCexonicDe novononsynonymous SNVNM_001115113
NM_025160
c.C1082G
c.C1130G
p.T361R
p.T377R
26.7-Takata2018 E
WDR26     1-0972-003chr1:
224771088-224771088
CTintergenicDe novo--Yuen2017 G
WDR26     12680.p1chr1:
224778389-224778389
CAintergenicDe novo--Turner2016 G
WDR26     SD0120.p1chr1:
224606065-224606065
GAexonicMaternalnonsynonymous SNVNM_001115113
NM_025160
c.C868T
c.C916T
p.R290W
p.R306W
23.6-Wang2020 T
Wang2020 T
WDR26     1-0665-003chr1:
224739421-224739421
GAintergenicDe novo--Yuen2017 G
WDR26     1-0299-004chr1:
224670065-224670065
CAintergenicDe novo--Yuen2017 G
WDR26     7-0255-003chr1:
224648065-224648065
ACintergenicDe novo--Yuen2017 G
WDR26     1-0054-004chr1:
224618762-224618762
CGintronicDe novo--Yuen2017 G
WDR26     1-0171-005chr1:
224799330-224799330
GAintergenicDe novo--Yuen2017 G
WDR26     60327940chr1:
224606038-224606038
GAexonicUnknownnonsynonymous SNVNM_001115113
NM_025160
c.C895T
c.C943T
p.R299W
p.R315W
35.08.24E-6Wang2020 T
Wang2020 T
WDR26     AU3702307chr1:
224748431-224748431
CTintergenicDe novo--Yuen2017 G
WDR26     129_1_a.2.1chr1:
224585814-224585814
CTexonicUnknownnonsynonymous SNVNM_001115113
NM_025160
c.G1711A
c.G1759A
p.A571T
p.A587T
28.15.783E-5Wang2020 T
Wang2020 T
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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