Variant Results

or

or

Results for "DPF3"

Variant Events: 25

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

DPF3

100004681021260862-C

chr14:
73238531-73238531

G

A

exonic

De novo

nonsynonymous SNV

NM_001280542
NM_001280544
NM_012074
NM_001280543

c.C103T
c.C268T
c.C103T
c.C133T

p.R35C
p.R90C
p.R35C
p.R45C

28.7

Fu2022 E

DPF3

2-1366-004

chr14:
73150905-73150905

C

A

intronic

De novo

-

-

Yuen2017 G

DPF3

AU3713302

chr14:
73364285-73364285

A

G

intergenic

De novo

-

-

Yuen2017 G

DPF3

2-1619-003

chr14:
73186577-73186577

G

A

intronic

De novo

-

-

Yuen2017 G

DPF3

AU4394302

chr14:
73272469-73272469

G

T

intronic

De novo

-

-

Yuen2017 G

DPF3

SP0012418

chr14:
73137884-73137884

C

A

exonic

De novo

nonsynonymous SNV

NM_001280544
NM_012074
NM_001280543

c.G1199T
c.G1034T
c.G1064T

p.G400V
p.G345V
p.G355V

18.12

-

Fu2022 E

DPF3

SP0062306

chr14:
73137544-73137544

C

T

UTR3

De novo

-

-

Fu2022 E

DPF3

SP0063809

chr14:
73128624-73128624

T

A

UTR3

De novo

-

-

Fu2022 E

DPF3

2-0296-004

chr14:
73086575-73086575

T

G

intronic

De novo

-

-

Yuen2017 G

DPF3

2-1364-003

chr14:
73262395-73262395

G

C

intronic

De novo

-

-

Yuen2017 G

DPF3

A21

chr14:
73250584-73250584

G

A

intronic

De novo

-

-

Wu2018 G

DPF3

1-0402-003

chr14:
73194971-73194971

G

C

intronic

De novo

-

-

Yuen2017 G

DPF3

2-1154-003

chr14:
73315116-73315116

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

DPF3

5-0055-004

chr14:
73327101-73327101

G

A

intronic

De novo

-

-

Yuen2017 G

DPF3

SP0090491

chr14:
73190299-73190299

C

G

intronic

De novo

-

-

Fu2022 E

DPF3

63-343

chr14:
73307939-73307939

G

C

intronic

De novo

-

-

Michaelson2012 G

DPF3

2-0305-003

chr14:
73369287-73369287

G

T

intergenic

De novo

-

-

Yuen2017 G

DPF3

2-0003-003

chr14:
73169382-73169382

C

T

intronic

De novo

-

-

Yuen2017 G

DPF3

2-1577-003

chr14:
73251058-73251058

T

C

intronic

De novo

-

-

Yuen2017 G

DPF3

1-0673-003

chr14:
73383179-73383179

T

C

intergenic

De novo

-

-

Yuen2017 G

DPF3

AU4476302

chr14:
73384820-73384820

A

G

intergenic

De novo

-

-

Yuen2017 G

DPF3

5-0041-003

chr14:
73142842-73142842

G

A

intronic

De novo

-

-

Yuen2017 G

DPF3

2-0273-003

chr14:
73182816-73182816

C

T

intronic

De novo

-

-

Yuen2017 G

DPF3

1-0381-003

chr14:
73280911-73280911

C

T

intronic

De novo

-

-

Yuen2017 G

DPF3

AU025704

chr14:
73284851-73284853

AGG

AG

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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