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Results for "WDR59"

Variant Events: 19

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
WDR59     1-0512-003chr16:
74997825-74997840
AAGAGAGAGAGAGAGAAAGAGAGAGAGAGAintronicDe novo--Yuen2017 G
WDR59     1-0567-004chr16:
75024712-75024712
TCintergenicDe novo--Yuen2017 G
WDR59     SP0009187chr16:
74946219-74946219
GAexonicsynonymous SNVNM_030581c.C1266Tp.C422C-4.119E-5Zhou2022 GE
WDR59     1-0385-003chr16:
74933723-74933723
GAintronicDe novo--Trost2022 G
Yuen2017 G
WDR59     200675674_1082034765chr16:
74927685-74927685
CTexonicDe novononsynonymous SNVNM_030581c.G1892Ap.R631H32.07.414E-5Fu2022 E
WDR59     AU4154303chr16:
74958436-74958436
CAintronicDe novo--Trost2022 G
Yuen2017 G
WDR59     08C75239chr16:
74908277-74908277
CTexonicDe novononsynonymous SNVNM_030581c.G2755Ap.G919S18.64-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
WDR59     SP0042045chr16:
74927570-74927570
TGintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
WDR59     SP0082603chr16:
74922062-74922062
CTintronicDe novo--Fu2022 E
Trost2022 G
WDR59     L7T2M_01chr16:
74986378-74986378
GAintronicDe novo--Trost2022 G
WDR59     AU2462302chr16:
75012008-75012008
CTintronicDe novo--Trost2022 G
WDR59     Chen2017:103chr16:
74927685-74927685
CTexonicDe novononsynonymous SNVNM_030581c.G1892Ap.R631H32.07.414E-5Chen2017 E
WDR59     AU2828301chr16:
74939379-74939384
ACCATCAintronicDe novo--Trost2022 G
WDR59     1-0552-003chr16:
74997825-74997840
AAGAGAGAGAGAGAGAAAGAGAGAGAGAGAintronicDe novo--Yuen2017 G
WDR59     SP0077999chr16:
74982447-74982449
TTGTexonicDe novoframeshift deletionNM_030581c.413_414delp.T138fs--Fu2022 E
WDR59     A30chr16:
74918370-74918370
CTintronicDe novo--Wu2018 G
WDR59     13069.p1chr16:
75010566-75010566
TCintronicDe novo--Turner2016 G
WDR59     AU2601301chr16:
74908277-74908277
CTexonicnonsynonymous SNVNM_030581c.G2755Ap.G919S18.64-Zhou2022 GE
WDR59     5-0138-003chr16:
74996366-74996366
TGintronicDe novo--Trost2022 G
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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