Variant Results

or

or

Results for "DENND1A"

Variant Events: 32

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

DENND1A

2-1266-003

chr9:
126702568-126702582

GTCTCTCTCTCTCTC

GTCTCTCTCTCTC

intergenic

De novo

-

-

Yuen2017 G

DENND1A

2-1408-004

chr9:
126735154-126735156

ATG

A

intergenic

De novo

-

-

Yuen2017 G

DENND1A

AU3790301

chr9:
126210819-126210819

G

T

intronic

De novo

-

-

Yuen2017 G

DENND1A

2-1105-003

chr9:
126208240-126208240

C

T

intronic

De novo

-

-

Yuen2017 G

DENND1A

31.s1

chr9:
126164194-126164194

G

A

intronic

De novo

-

-

An2014 E

DENND1A

2-1138-003

chr9:
126624913-126624913

A

T

intronic

De novo

-

-

Yuen2017 G

DENND1A

2-0285-004

chr9:
126709120-126709125

GGATCA

G

intergenic

De novo

-

-

Yuen2017 G

DENND1A

120708

chr9:
126414327-126414327

G

A

exonic

De novo

nonsynonymous SNV

NM_020946
NM_024820

c.C583T
c.C583T

p.R195C
p.R195C

27.4

-

Fu2022 E

DENND1A

2-1376-003

chr9:
126709499-126709499

C

T

intergenic

De novo

-

-

Yuen2017 G

DENND1A

2-1132-003

chr9:
126305912-126305912

C

A

intronic

De novo

-

-

Yuen2017 G

DENND1A

SP0046488

chr9:
126175700-126175700

T

C

intronic

De novo

-

-

Fu2022 E

DENND1A

SP0031954

chr9:
126164009-126164009

T

C

UTR3

De novo

-

-

Fu2022 E

DENND1A

1-0629-003

chr9:
126753234-126753234

G

A

intergenic

De novo

-

-

Yuen2017 G

DENND1A

1-0354-006

chr9:
126345211-126345213

CAG

C

intronic

De novo

-

-

Yuen2017 G

DENND1A

1-0665-003

chr9:
126636342-126636342

T

C

intronic

De novo

-

-

Yuen2017 G

DENND1A

2-1734-003

chr9:
126734208-126734208

G

A

intergenic

De novo

-

-

Yuen2017 G

DENND1A

5-0017-004

chr9:
126411692-126411692

T

C

intronic

De novo

-

-

Yuen2017 G

DENND1A

AU3076302

chr9:
126706971-126706971

G

A

intergenic

De novo

-

-

Yuen2017 G

DENND1A

5-0084-003

chr9:
126539211-126539211

G

A

intronic

De novo

-

-

Yuen2017 G

DENND1A

AU2139305

chr9:
126182247-126182247

C

T

intronic

De novo

-

-

Yuen2017 G

DENND1A

AU3154301

chr9:
126276826-126276826

G

A

intronic

De novo

-

-

Yuen2017 G

DENND1A

13066.p1

chr9:
126458061-126458061

G

A

intronic

De novo

-

-

Werling2018 G

DENND1A

7-0032-003

chr9:
126577603-126577603

T

C

intronic

De novo

-

-

Yuen2017 G

DENND1A

1-0155-003

chr9:
126606293-126606293

C

A

intronic

De novo

-

-

Yuen2017 G

DENND1A

2-1341-003

chr9:
126610460-126610460

A

G

intronic

De novo

-

-

Yuen2017 G

DENND1A

1-0010-005

chr9:
126251648-126251648

G

GACCTGGC

intronic

De novo

-

-

Yuen2017 G

DENND1A

1-0539-003

chr9:
126526182-126526182

G

A

intronic

De novo

-

-

Yuen2017 G

DENND1A

7-0194-003

chr9:
126269655-126269655

A

G

intronic

De novo

-

-

Yuen2017 G

DENND1A

AU0636303

chr9:
126685959-126685959

C

T

intronic

De novo

-

-

Yuen2017 G

DENND1A

AU3782303

chr9:
126294564-126294564

T

C

intronic

De novo

-

-

Yuen2017 G

DENND1A

5-0050-004

chr9:
126360099-126360099

G

C

intronic

De novo

-

-

Yuen2017 G

DENND1A

AU4032307

chr9:
126538420-126538420

G

A

intronic

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
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