Variant Results

or

Results for "DCAF4"

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

DCAF4

2-1409-003

chr14:
73422723-73422723

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DCAF4

AU01303

chr14:
73420965-73420965

G

C

exonic

De novo

nonsynonymous SNV

NM_181341
NM_181340
NM_001163508
NM_001163509
NM_015604

c.G722C
c.G602C
c.G905C
c.G839C
c.G902C

p.S241T
p.S201T
p.S302T
p.S280T
p.S301T

24.0

-

Lim2017 E
Neale2012 E

DCAF4

iHART1257

chr14:
73420965-73420965

G

C

exonic

De novo

nonsynonymous SNV

NM_181341
NM_181340
NM_001163508
NM_001163509
NM_015604

c.G722C
c.G602C
c.G905C
c.G839C
c.G902C

p.S241T
p.S201T
p.S302T
p.S280T
p.S301T

24.0

-

Ruzzo2019 G

DCAF4

SP0015379

chr14:
73407001-73407001

C

G

exonic

De novo

nonsynonymous SNV

NM_001163508
NM_001163509
NM_015604
NM_181341

c.C267G
c.C201G
c.C267G
c.C267G

p.N89K
p.N67K
p.N89K
p.N89K

20.8

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

DCAF4

7-0141-003

chr14:
73412689-73412689

C

T

exonic

De novo

nonsynonymous SNV

NM_181341
NM_181340
NM_001163508
NM_001163509
NM_015604

c.C449T
c.C332T
c.C632T
c.C566T
c.C632T

p.T150M
p.T111M
p.T211M
p.T189M
p.T211M

13.06

1.647E-5

Trost2022 G
Zhou2022 GE

DCAF4

SP0059815

chr14:
73428716-73428716

T

G

intergenic

De novo

-

Fu2022 E

DCAF4

2-1232-003

chr14:
73415040-73415040

T

C

intronic

De novo

-

Trost2022 G

DCAF4

3-0221-000

chr14:
73407053-73407053

C

T

exonic

De novo

nonsynonymous SNV

NM_181340
NM_001163508
NM_001163509
NM_015604
NM_181341

c.C19T
c.C319T
c.C253T
c.C319T
c.C319T

p.R7W
p.R107W
p.R85W
p.R107W
p.R107W

16.92

9.067E-5

Trost2022 G

DCAF4

SP0121915

chr14:
73428716-73428716

T

G

intergenic

De novo

-

Fu2022 E

DCAF4

2-1232-003

chr14:
73415035-73415036

GT

ATA

intronic

De novo

-

Trost2022 G

DCAF4

1-1120-003

chr14:
73406338-73406338

C

T

intronic

De novo

-

Trost2022 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 notes	View
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