Variant Results

or

Results for "DCAF4L2"

Variant Events: 17

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

DCAF4L2

AU038204

chr8:
88956493-88956493

A

G

intergenic

De novo

-

Yuen2017 G

DCAF4L2

2-1338-003

chr8:
88997674-88997674

G

T

intergenic

De novo

-

Yuen2017 G

DCAF4L2

AU4152303

chr8:
88938443-88938443

C

A

intergenic

De novo

-

Yuen2017 G

DCAF4L2

2-1371-003

chr8:
89008988-89008988

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DCAF4L2

A30

chr8:
88948381-88948381

C

T

intergenic

De novo

-

Wu2018 G

DCAF4L2

2-1409-003

chr8:
89007772-89007772

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DCAF4L2

5-0105-003

chr8:
89023213-89023213

A

G

intergenic

De novo

-

Yuen2017 G

DCAF4L2

36886

chr8:
88885654-88885654

G

C

exonic

De novo

nonsynonymous SNV

NM_152418

c.C546G

p.I182M

12.45

-

Trost2022 G

DCAF4L2

2-1237-003

chr8:
88945104-88945104

C

A

intergenic

De novo

-

Yuen2017 G

DCAF4L2

SP0152339

chr8:
88885519-88885519

G

A

exonic

De novo

synonymous SNV

NM_152418

c.C681T

p.V227V

-

Trost2022 G

DCAF4L2

12969.p1

chr8:
88885497-88885497

T

C

exonic

De novo

nonsynonymous SNV

NM_152418

c.A703G

p.M235V

2.392

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

DCAF4L2

AU2022302

chr8:
88921198-88921198

G

A

intergenic

De novo

-

Yuen2017 G

DCAF4L2

14563.p1

chr8:
88885654-88885654

G

C

exonic

De novo

nonsynonymous SNV

NM_152418

c.C546G

p.I182M

12.45

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

DCAF4L2

AU4033304

chr8:
88906964-88906964

A

G

intergenic

De novo

-

Yuen2017 G

DCAF4L2

Lim2017:36886

chr8:
88885654-88885654

G

C

exonic

De novo

nonsynonymous SNV

NM_152418

c.C546G

p.I182M

12.45

-

Lim2017 E

DCAF4L2

SSC05997

chr8:
88885497-88885497

T

C

exonic

De novo

nonsynonymous SNV

NM_152418

c.A703G

p.M235V

2.392

-

Lim2017 E
Trost2022 G

DCAF4L2

2-1378-003

chr8:
88918282-88918282

T

G

intergenic

De 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 notes	View
	More