Variant Results

or

Results for "DENND4A"

Variant Events: 16

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

DENND4A

12492.p1

chr15:
65989656-65989656

T

C

exonic

De novo

nonsynonymous SNV

NM_005848
NM_001144823

c.A2767G
c.A2896G

p.T923A
p.T966A

7.021

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

DENND4A

200675519@1082034141

chr15:
66048521-66048521

A

G

exonic

De novo

nonsynonymous SNV

NM_001144823
NM_005848

c.T268C
c.T268C

p.C90R
p.C90R

21.8

-

Satterstrom2020 E

DENND4A

7-0058-003

chr15:
65962216-65962216

G

C

exonic

De novo

nonsynonymous SNV

NM_005848
NM_001144823

c.C4556G
c.C4685G

p.S1519C
p.S1562C

14.27

-

Yuen2017 G

DENND4A

36990

chr15:
65983633-65983633

A

G

exonic

De novo

nonsynonymous SNV

NM_005848
NM_001144823

c.T3167C
c.T3296C

p.I1056T
p.I1099T

11.49

-

Fu2022 E

DENND4A

AU4306302

chr15:
65989295-65989295

T

C

intronic

De novo

-

Yuen2017 G

DENND4A

10C101297

chr15:
65993526-65993526

A

C

exonic

De novo

nonsynonymous SNV

NM_001144823
NM_005848

c.T2564G
c.T2564G

p.V855G
p.V855G

22.9

-

Fu2022 E

DENND4A

12492_p1

chr15:
65989656-65989656

T

C

exonic

De novo

nonsynonymous SNV

NM_005848
NM_001144823

c.A2767G
c.A2896G

p.T923A
p.T966A

7.021

-

Fu2022 E

DENND4A

200675519_1082034141

chr15:
66048521-66048521

A

G

exonic

De novo

nonsynonymous SNV

NM_001144823
NM_005848

c.T268C
c.T268C

p.C90R
p.C90R

21.8

-

Fu2022 E

DENND4A

9190736

chr15:
65959661-65959661

C

T

intronic

De novo

-

Fu2022 E

DENND4A

Chen2017:70

chr15:
66048521-66048521

A

G

exonic

De novo

nonsynonymous SNV

NM_001144823
NM_005848

c.T268C
c.T268C

p.C90R
p.C90R

21.8

-

Chen2017 E

DENND4A

13649.p1

chr15:
65953737-65953737

C

T

UTR3

De novo

-

Turner2016 G

DENND4A

1-0763-004

chr15:
66103850-66103850

A

G

intergenic

De novo

-

Yuen2017 G

DENND4A

12228.p1

chr15:
65993482-65993482

G

A

exonic

De novo

nonsynonymous SNV

NM_001144823
NM_005848

c.C2608T
c.C2608T

p.L870F
p.L870F

19.92

8.519E-5

Ji2016 E

DENND4A

AU3807302

chr15:
66096872-66096872

C

T

intergenic

De novo

-

Yuen2017 G

DENND4A

1-0751-003

chr15:
66118777-66118777

G

A

intergenic

De novo

-

Yuen2017 G

DENND4A

14606.p1

chr15:
65983633-65983633

A

G

exonic

De novo

nonsynonymous SNV

NM_005848
NM_001144823

c.T3167C
c.T3296C

p.I1056T
p.I1099T

11.49

-

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

Source Variant Information

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Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
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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
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