Variant Results

or

or

Results for "DENND3"

Variant Events: 19

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

DENND3

12317.p1

chr8:
142200355-142200355

G

GGT

intronic

De novo

-

Dong2014 E
Kosmicki2017 E

DENND3

1-0330-004

chr8:
142172777-142172777

G

A

intronic

De novo

-

-

Yuen2017 G

DENND3

14344.p1

chr8:
142148158-142148158

C

T

exonic

Mosaic Mat.

synonymous SNV

NM_014957

c.C183T

p.C61C

2.261

Dou2017 E

DENND3

2-1421-003

chr8:
142206837-142206837

C

A

downstream

De novo

-

-

Yuen2016 G
Yuen2017 G

DENND3

AU3847302

chr8:
142188802-142188802

C

T

intronic

De novo

-

-

Yuen2017 G

DENND3

1-0483-003

chr8:
142208674-142208674

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

DENND3

1-0736-003

chr8:
142151150-142151150

C

T

intronic

De novo

-

-

Yuen2017 G

DENND3

JASD_Fam0082

chr8:
142170768-142170768

G

A

exonic

De novo

nonsynonymous SNV

NM_014957

c.G994A

p.A332T

9.295

Takata2018 E

DENND3

EGAN00001101387

chr8:
142185623-142185623

G

T

intronic

De novo

-

-

Satterstrom2020 E

DENND3

14341.p1

chr8:
142161681-142161681

A

T

intronic

De novo

-

Satterstrom2020 E

DENND3

7-0002-003

chr8:
142176027-142176027

C

G

intronic

De novo

-

-

Yuen2017 G

DENND3

1-0978-003

chr8:
142201054-142201054

G

C

intronic

De novo

-

-

Yuen2017 G

DENND3

2-1738-003

chr8:
142144398-142144398

A

T

intronic

De novo

-

-

Yuen2017 G

DENND3

5C460

chr8:
142148261-142148261

C

T

intronic

De novo

-

-

Satterstrom2020 E

DENND3

SP0139095-DUP

chr8:
142146649-142146649

T

C

intronic

De novo

5.901

-

Fu2022 E

DENND3

SP0032561

chr8:
142175342-142175342

G

A

exonic

De novo

nonsynonymous SNV

NM_014957

c.G1267A

p.D423N

21.6

-

Feliciano2019 E
Fu2022 E

DENND3

SP0079050

chr8:
142146569-142146569

T

G

intronic

De novo

-

-

Fu2022 E

DENND3

2-1426-003

chr8:
142182055-142182057

ACT

A

intronic

De novo

-

-

Yuen2017 G

DENND3

SP0056731

chr8:
142185470-142185470

G

A

exonic

De novo

nonsynonymous SNV

NM_014957

c.G2207A

p.G736D

22.6

-

Fu2022 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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