Variant Results

or

Results for "DCAF1"

Variant Events: 13

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

2-0244-003

chr3:
51436614-51436621

ATGGCCCT

A

intronic

De novo

-

Yuen2017 G

DCAF1

AU3839302

chr3:
51530616-51530616

A

G

intronic

De novo

-

Yuen2017 G

DCAF1

3-0434-000

chr3:
51457792-51457792

T

C

exonic

De novo

nonsynonymous SNV

NM_001171904
NM_014703

c.A2470G
c.A2473G

p.M824V
p.M825V

9.276

-

Yuen2016 G
Yuen2017 G
Zhou2022 GE

DCAF1

AU045512

chr3:
51544202-51544202

G

A

intergenic

De novo

-

Yuen2017 G

DCAF1

SP0072076

chr3:
51457345-51457345

G

A

exonic

De novo

nonsynonymous SNV

NM_001171904
NM_014703

c.C2917T
c.C2920T

p.P973S
p.P974S

19.56

-

Fu2022 E
Zhou2022 GE

DCAF1

1-1134-004

chr3:
51435623-51435623

A

G

intronic

De novo

-

Trost2022 G

DCAF1

1-0261-004

chr3:
51521301-51521301

T

A

intronic

De novo

-

Yuen2017 G

DCAF1

AU3645301

chr3:
51490381-51490381

G

A

intronic

De novo

-

Yuen2017 G

DCAF1

1-0564-003

chr3:
51468540-51468540

C

A

intronic

De novo

-

Yuen2017 G

DCAF1

08C76982

chr3:
51440779-51440779

G

A

exonic

De novo

synonymous SNV

NM_001171904
NM_014703

c.C4101T
c.C4104T

p.T1367T
p.T1368T

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DCAF1

NDAR_INVCK592EMP_wes1

chr3:
51452176-51452176

G

A

exonic

De novo

nonsynonymous SNV

NM_001171904
NM_014703

c.C3577T
c.C3580T

p.R1193C
p.R1194C

26.1

2.0E-4

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DCAF1

3-0246-000

chr3:
51446174-51446174

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DCAF1

PN400538

chr3:
51475802-51475802

G

C

exonic

De novo

nonsynonymous SNV

NM_001171904
NM_014703

c.C622G
c.C625G

p.L208V
p.L209V

14.18

-

Leblond2019 E

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 notes	View
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