or
or
Exact

Results for "DCAF5"

Variant Events: 12

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
DCAF5     2-1341-004chr14:
69628705-69628705
TCintergenicDe novo--Yuen2017 G
DCAF5     1-0068-003chr14:
69589507-69589507
TCintronicDe novo--Yuen2017 G
DCAF5     AU2433303chr14:
69549681-69549681
CTintronicDe novo--Yuen2017 G
DCAF5     SSC06219chr14:
69589039-69589039
GTexonicDe novononsynonymous SNVNM_001284206
NM_001284207
NM_001284208
NM_003861
c.C253A
c.C7A
c.C253A
c.C253A
p.Q85K
p.Q3K
p.Q85K
p.Q85K
13.34-Lim2017 E
DCAF5     2-0198-003chr14:
69494769-69494769
CAintergenicDe novo--Yuen2017 G
DCAF5     5-0106-003chr14:
69625344-69625348
TGAAGTGintergenicDe novo--Yuen2017 G
DCAF5     AU046708chr14:
69611848-69611848
CTintronicDe novo--Yuen2017 G
DCAF5     AU3638302chr14:
69458748-69458748
ACintergenicDe novo--Yuen2017 G
DCAF5     13515.p1chr14:
69538319-69538319
AGintronicDe novo--Turner2016 G
DCAF5     12858.p1chr14:
69589039-69589039
GTexonicMosaic, De novononsynonymous SNVNM_001284206
NM_001284207
NM_001284208
NM_003861
c.C253A
c.C7A
c.C253A
c.C253A
p.Q85K
p.Q3K
p.Q85K
p.Q85K
13.34-Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
DCAF5     1-0551-003chr14:
69582609-69582609
TCintronicDe novo--Yuen2017 G
DCAF5     AU2089302chr14:
69523272-69523272
GCintronicDe novo--Yuen2017 G
Source Variant Information

, -

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
More