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Results for "WDR66"

Variant Events: 14

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
WDR66     09C85591chr12:
122359408-122359408
GAexonicDe novononsynonymous SNVNM_001178003
NM_144668
c.G197A
c.G197A
p.G66E
p.G66E
0.0080.0026Neale2012 E
WDR66     iHART1862chr12:
122380882-122380882
GAsplicingMaternalsplicing12.327.458E-5Ruzzo2019 G
WDR66     1-0595-004chr12:
122394030-122394030
GTintronicDe novo--Trost2022 G
WDR66     SP0217462chr12:
122396424-122396424
CTexonicDe novosynonymous SNVNM_001178003
NM_144668
c.C1977T
c.C1977T
p.P659P
p.P659P
-8.289E-6Trost2022 G
WDR66     SP0025610chr12:
122396819-122396819
TCintronicDe novo--Fu2022 E
WDR66     SJD_45.3chr12:
122357962-122357962
CTintronicDe novo--Trost2022 G
WDR66     5-5171-003chr12:
122374360-122374360
AGintronicDe novo--Trost2022 G
WDR66     SP0247128chr12:
122439497-122439497
CTexonicDe novosynonymous SNVNM_144668c.C3330Tp.S1110S-2.484E-5Trost2022 G
WDR66     mAGRE1862chr12:
122380882-122380882
GAsplicingMaternalsplicing12.327.458E-5Cirnigliaro2023 G
WDR66     MSSNG00078-003chr12:
122413425-122413425
GAintronicDe novo--Trost2022 G
WDR66     SP0174939chr12:
122437699-122437699
AGexonicDe novosynonymous SNVNM_144668c.A3084Gp.P1028P--Trost2022 G
WDR66     AU2427302chr12:
122452090-122452090
CTintergenicDe novo--Yuen2017 G
WDR66     2-0142-003chr12:
122401624-122401628
CATTCACAGintronicDe novo--Trost2022 G
WDR66     2-0122-003chr12:
122401624-122401628
CATTCACAGintronicDe novo--Trost2022 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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