Variant Results

or

Results for "DENND5A"

Variant Events: 27

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

DENND5A

1-0531-003

chr11:
9174597-9174597

T

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DENND5A

5-0025-004

chr11:
9240354-9240354

A

G

intronic

De novo

-

Yuen2017 G

DENND5A

1-0323-003

chr11:
9219890-9219890

A

AGT

intronic

De novo

-

Trost2022 G
Yuen2017 G

DENND5A

2-0022-005

chr11:
9270371-9270371

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DENND5A

AU0285-0102

chr11:
9192306-9192306

C

T

exonic

De novo

nonsynonymous SNV

NM_001243254
NM_015213

c.G1925A
c.G1925A

p.R642H
p.R642H

26.3

-

Fu2022 E

DENND5A

2-0319-004

chr11:
9295087-9295087

A

G

intergenic

De novo

-

Yuen2017 G

DENND5A

5-0026-003

chr11:
9257385-9257387

CTG

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DENND5A

AU2793301

chr11:
9162542-9162542

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DENND5A

iHART3044

chr11:
9171645-9171647

TGA

T

exonic

Paternal

frameshift deletion

NM_001243254
NM_015213

c.2716_2717del
c.2716_2717del

p.S906fs
p.S906fs

-

Ruzzo2019 G

DENND5A

1-0358-003

chr11:
9256670-9256678

AATTCCATT

A

intronic

De novo

-

Yuen2017 G

DENND5A

1-0835-003

chr11:
9189816-9189816

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DENND5A

20-0909490-21

chr11:
9168526-9168527

GT

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

DENND5A

09C95788

chr11:
9163520-9163520

C

T

splicing;exonic

De novo

nonsynonymous SNV

NM_015213

c.G3647A

p.G1216D

17.37

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DENND5A

AU036A

chr11:
9172264-9172264

T

C

exonic

De novo

nonsynonymous SNV

NM_001243254
NM_015213

c.A2569G
c.A2569G

p.M857V
p.M857V

16.06

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DENND5A

2-1485-004

chr11:
9247028-9247028

G

T

intronic

De novo

-

Yuen2017 G

DENND5A

MT_74.3

chr11:
9211439-9211439

G

A

intronic

De novo

-

Trost2022 G

DENND5A

5-5159-003

chr11:
9211498-9211498

C

T

intronic

De novo

-

Trost2022 G

DENND5A

MSSNG00112-003

chr11:
9194050-9194050

C

G

intronic

De novo

-

Trost2022 G

DENND5A

MSSNG00415-003

chr11:
9211389-9211389

G

A

intronic

De novo

-

Trost2022 G

DENND5A

4-0082-003

chr11:
9177034-9177034

G

A

intronic

De novo

-

Trost2022 G

DENND5A

2-1369-003

chr11:
9258639-9258639

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DENND5A

1-0300-003

chr11:
9233923-9233923

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DENND5A

REACH000705

chr11:
9261253-9261253

C

G

intronic

De novo

-

Trost2022 G

DENND5A

mAGRE3044

chr11:
9171645-9171647

TGA

T

exonic

Paternal

frameshift deletion

NM_001243254
NM_015213

c.2716_2717del
c.2716_2717del

p.S906fs
p.S906fs

-

Cirnigliaro2023 G

DENND5A

4-0062-003

chr11:
9268840-9268841

CT

AG

intronic

De novo

-

Trost2022 G

DENND5A

3-0052-000

chr11:
9229996-9229996

G

A

intronic

De novo

-

Trost2022 G

DENND5A

MSSNG00028-004

chr11:
9251422-9251422

C

A

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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