Variant Results

or

Results for "DENND2C"

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

DENND2C

2-1107-003

chr1:
115209355-115209355

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DENND2C

DEASD_1028_001

chr1:
115142853-115142853

T

C

exonic

De novo

nonsynonymous SNV

NM_198459
NM_001256404

c.A1906G
c.A2077G

p.R636G
p.R693G

20.8

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DENND2C

13649.p1

Complex Event; expand row to view variants

De novo

-

Turner2016 G
Turner2016 G

DENND2C

12175.p1

chr1:
115211750-115211750

A

C

intronic

De novo

-

Turner2016 G

DENND2C

188-03-100416

chr1:
115137140-115137141

CA

C

exonic

De novo

frameshift deletion

NM_198459
NM_001256404

c.2213delT
c.2384delT

p.L738fs
p.L795fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DENND2C

4-0064-004

chr1:
115137958-115137958

G

A

intronic

De novo

-

Trost2022 G

DENND2C

5-5006-003

chr1:
115198022-115198022

C

A

intronic

De novo

-

Trost2022 G

DENND2C

AU1223303

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

DENND2C

DEASD_0336_001

chr1:
115153709-115153709

C

T

exonic

De novo

nonsynonymous SNV

NM_198459
NM_001256404

c.G1183A
c.G1354A

p.E395K
p.E452K

21.6

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DENND2C

3-0482-000

chr1:
115141541-115141541

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DENND2C

SP0132441

chr1:
115144117-115144117

T

C

intronic

De novo

-

8.254E-6

Fu2022 E
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
	More