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Results for "DPP3"

Variant Events: 10

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-HSC0079chr11:
66252653-66252653
GCexonicInheritednonsynonymous SNVNM_005700
NM_130443
c.G280C
c.G280C
p.V94L
p.V94L
13.053.0E-4Patowary2019 E
DPP3     12175.p1chr11:
66273658-66273658
AGintronicDe novo--Turner2016 G
DPP3     12175.p1chr11:
66273665-66273665
TCintronicDe novo--Turner2016 G
DPP3     iHART2656chr11:
66255479-66255479
GAsplicingMaternalsplicing15.252.538E-5Ruzzo2019 G
DPP3     12229.p1chr11:
66264766-66264766
CTintronicDe novo-1.671E-5Krumm2015 E
Satterstrom2020 E
DPP3     12175.p1chr11:
66273670-66273670
ATintronicDe novo--Turner2016 G
DPP3     2-1336-003chr11:
66275394-66275394
CTintronicDe novo--Yuen2017 G
DPP3     AU190Achr11:
66254814-66254814
GAsplicingDe novosplicing20.3-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DPP3     09C83343Achr11:
66261048-66261048
GAexonicDe novononsynonymous SNVNM_001256670
NM_005700
NM_130443
c.G1243A
c.G1333A
c.G1333A
p.V415M
p.V445M
p.V445M
22.3-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
DPP3     7-0183-003chr11:
66253653-66253653
AGintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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