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Results for "WDR20"

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
WDR20     2-1382-003chr14:
102646473-102646473
CGintronicDe novo--Yuen2016 G
Yuen2017 G
WDR20     2-0219-004chr14:
102672662-102672662
TCintronicDe novo--Yuen2017 G
WDR20     AU072904chr14:
102609810-102609810
GAintronicDe novo--Yuen2017 G
WDR20     AU4028302chr14:
102635494-102635494
AGintronicDe novo--Yuen2017 G
WDR20     2-1644-003chr14:
102637582-102637582
TCintronicDe novo--Yuen2017 G
WDR20     SP0013376chr14:
102675666-102675667
ATAexonicDe novoframeshift deletionNM_001242416
NM_181308
NM_001242418
NM_144574
NM_181291
NM_001242417
c.977delT
c.977delT
c.1196delT
c.1160delT
c.1160delT
c.1253delT
p.I326fs
p.I326fs
p.I399fs
p.I387fs
p.I387fs
p.I418fs
--Feliciano2019 E
WDR20     2-1415-004chr14:
102637582-102637582
TCintronicDe novo--Yuen2017 G
WDR20     AU3451301chr14:
102628465-102628465
AGintronicDe novo--Yuen2017 G
WDR20     P1124chr14:
102675594-102675594
GAexonicDe novononsynonymous SNVNM_001242416
NM_181308
NM_001242418
NM_144574
NM_181291
NM_001242417
c.G904A
c.G904A
c.G1123A
c.G1087A
c.G1087A
c.G1180A
p.V302I
p.V302I
p.V375I
p.V363I
p.V363I
p.V394I
3.241.647E-5Hashimoto2016 E
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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