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Results for "WDR75"

Variant Events: 10

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
WDR75     DEASD_0334_001chr2:
190323576-190323576
ATexonicDe novononsynonymous SNVNM_032168
NM_001303096
c.A667T
c.A475T
p.M223L
p.M159L
13.18-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
WDR75     2-1509-003chr2:
190423869-190423869
CTintergenicDe novo--Yuen2017 G
WDR75     JASD_Fam0003chr2:
190313139-190313139
GAexonicDe novononsynonymous SNVNM_032168c.G121Ap.V41I14.64-Takata2018 E
WDR75     AU3052302chr2:
190319924-190319924
GAintronicDe novo--Yuen2017 G
WDR75     1-0296-003chr2:
190421444-190421444
TCintergenicDe novo--Yuen2017 G
WDR75     SP0139745chr2:
190331353-190331353
GCintronicDe novo--Fu2022 E
WDR75     2-0256-004chr2:
190376888-190376888
TAintergenicDe novo--Yuen2017 G
WDR75     1-0265-003chr2:
190384080-190384080
CTintergenicDe novo--Yuen2017 G
WDR75     1-0265-004chr2:
190384080-190384080
CTintergenicDe novo--Yuen2017 G
WDR75     AU4013302chr2:
190330894-190330894
AGintronicDe novo--Trost2022 G
Yuen2017 G
Source Variant Information

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Paper alias:

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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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