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Results for "WDR4"

Variant Events: 9

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
WDR4     13961.p1chr21:
44273814-44273814
CAexonicDe novononsynonymous SNVNM_001260474
NM_001260475
NM_001260476
NM_001260477
NM_018669
NM_033661
c.G837T
c.G402T
c.G402T
c.G402T
c.G840T
c.G840T
p.L279F
p.L134F
p.L134F
p.L134F
p.L280F
p.L280F
10.84-Satterstrom2020 E
WDR4     1-0570-003chr21:
44290015-44290015
CTintronicDe novo--Yuen2017 G
WDR4     12568.p1chr21:
44302493-44302493
TGintergenicDe novo--Turner2016 G
WDR4     AU4468301chr21:
44294831-44294831
CTintronicDe novo--Yuen2017 G
WDR4     Cukier2014:17351chr21:
44270267-44270267
CGexonicUnknownnonsynonymous SNVNM_001260474
NM_001260475
NM_001260476
NM_001260477
NM_018669
NM_033661
c.G1128C
c.G693C
c.G693C
c.G693C
c.G1131C
c.G1131C
p.E376D
p.E231D
p.E231D
p.E231D
p.E377D
p.E377D
14.131.0E-4Cukier2014 E
WDR4     11977.p1chr21:
44270229-44270229
CTexonicMosaicnonsynonymous SNVNM_001260474
NM_001260475
NM_001260476
NM_001260477
NM_018669
NM_033661
c.G1166A
c.G731A
c.G731A
c.G731A
c.G1169A
c.G1169A
p.R389Q
p.R244Q
p.R244Q
p.R244Q
p.R390Q
p.R390Q
2.150.1888Dou2017 E
WDR4     11057.p1chr21:
44270292-44270292
GAexonicDe novononsynonymous SNVNM_001260474
NM_001260475
NM_001260476
NM_001260477
NM_018669
NM_033661
c.C1103T
c.C668T
c.C668T
c.C668T
c.C1106T
c.C1106T
p.T368I
p.T223I
p.T223I
p.T223I
p.T369I
p.T369I
13.281.66E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
WDR4     14601.p1chr21:
44272360-44272360
CTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
WDR4     AU3727303chr21:
44306804-44306804
CTintergenicDe 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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