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Results for "DCAF1"

Variant Events: 11

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
DCAF1     2-0244-003chr3:
51436614-51436621
ATGGCCCTAintronicDe novo--Yuen2017 G
DCAF1     AU3839302chr3:
51530616-51530616
AGintronicDe novo--Yuen2017 G
DCAF1     1-0261-004chr3:
51521301-51521301
TAintronicDe novo--Yuen2017 G
DCAF1     AU3645301chr3:
51490381-51490381
GAintronicDe novo--Yuen2017 G
DCAF1     1-0564-003chr3:
51468540-51468540
CAintronicDe novo--Yuen2017 G
DCAF1     3-0434-000chr3:
51457792-51457792
TCexonicDe novononsynonymous SNVNM_001171904
NM_014703
c.A2470G
c.A2473G
p.M824V
p.M825V
9.276-Yuen2016 G
Yuen2017 G
DCAF1     08C76982chr3:
51440779-51440779
GAexonicDe novosynonymous SNVNM_001171904
NM_014703
c.C4101T
c.C4104T
p.T1367T
p.T1368T
--Satterstrom2020 E
DCAF1     NDAR_INVCK592EMP_wes1chr3:
51452176-51452176
GAexonicDe novononsynonymous SNVNM_001171904
NM_014703
c.C3577T
c.C3580T
p.R1193C
p.R1194C
26.12.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
DCAF1     3-0246-000chr3:
51446174-51446174
GAintronicDe novo--Yuen2016 G
Yuen2017 G
DCAF1     AU045512chr3:
51544202-51544202
GAintergenicDe novo--Yuen2017 G
DCAF1     PN400538chr3:
51475802-51475802
GCexonicDe novononsynonymous SNVNM_001171904
NM_014703
c.C622G
c.C625G
p.L208V
p.L209V
14.18-Leblond2019 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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