Variant Results

or

Results for "DPP3"

Variant Events: 12

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

DPP3

152-HSC0079

chr11:
66252653-66252653

G

C

exonic

Inherited

nonsynonymous SNV

NM_005700
NM_130443

c.G280C
c.G280C

p.V94L
p.V94L

13.05

3.0E-4

Patowary2019 E

DPP3

12175.p1

chr11:
66273658-66273658

A

G

intronic

De novo

-

Turner2016 G

DPP3

12175.p1

chr11:
66273665-66273665

T

C

intronic

De novo

-

Turner2016 G

DPP3

12175.p1

chr11:
66273670-66273670

A

T

intronic

De novo

-

Turner2016 G

DPP3

2-1336-003

chr11:
66275394-66275394

C

T

intronic

De novo

-

Yuen2017 G

DPP3

12229_p1

chr11:
66264766-66264766

C

T

intronic

De novo

-

1.671E-5

Fu2022 E

DPP3

SP0143930

chr11:
66252675-66252675

C

T

exonic

De novo

nonsynonymous SNV

NM_005700
NM_130443

c.C302T
c.C302T

p.S101F
p.S101F

20.4

-

Fu2022 E

DPP3

iHART2656

chr11:
66255479-66255479

G

A

splicing

Maternal

splicing

15.25

2.538E-5

Ruzzo2019 G

DPP3

12229.p1

chr11:
66264766-66264766

C

T

intronic

De novo

-

1.671E-5

Krumm2015 E
Satterstrom2020 E

DPP3

AU190A

chr11:
66254814-66254814

G

A

splicing

De novo

splicing

20.3

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

DPP3

09C83343A

chr11:
66261048-66261048

G

A

exonic

De novo

nonsynonymous SNV

NM_001256670
NM_005700
NM_130443

c.G1243A
c.G1333A
c.G1333A

p.V415M
p.V445M
p.V445M

22.3

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E

DPP3

7-0183-003

chr11:
66253653-66253653

A

G

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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