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Results for "DPF3"

Variant Events: 43

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-Cchr14:
73238531-73238531
GAexonicDe novononsynonymous SNVNM_001280542
NM_001280544
NM_012074
NM_001280543
c.C103T
c.C268T
c.C103T
c.C133T
p.R35C
p.R90C
p.R35C
p.R45C
28.71.669E-5Fu2022 E
DPF3     2-1366-004chr14:
73150905-73150905
CAintronicDe novo--Trost2022 G
Yuen2017 G
DPF3     AU3713302chr14:
73364285-73364285
AGintergenicDe novo--Yuen2017 G
DPF3     2-1619-003chr14:
73186577-73186577
GAintronicDe novo--Trost2022 G
Yuen2017 G
DPF3     AU4394302chr14:
73272469-73272469
GTintronicDe novo--Trost2022 G
Yuen2017 G
DPF3     SP0012418chr14:
73137884-73137884
CAexonicDe novononsynonymous SNVNM_001280544
NM_012074
NM_001280543
c.G1199T
c.G1034T
c.G1064T
p.G400V
p.G345V
p.G355V
18.12-Fu2022 E
Trost2022 G
Zhou2022 GE
DPF3     1-1070-003chr14:
73197615-73197615
GAintronicDe novo--Trost2022 G
DPF3     MSSNG00196-003chr14:
73204444-73204444
AGintronicDe novo--Trost2022 G
DPF3     SP0062306chr14:
73137544-73137544
CTUTR3De novo--Fu2022 E
Trost2022 G
DPF3     7-0105-003chr14:
73168793-73168797
ACAGCAintronicDe novo--Trost2022 G
DPF3     SP0063809chr14:
73128624-73128624
TAUTR3De novo--Fu2022 E
Trost2022 G
DPF3     MSSNG00347-003chr14:
73189097-73189097
GAintronicDe novo--Trost2022 G
DPF3     2-0296-004chr14:
73086575-73086575
TGintronicDe novo--Trost2022 G
Yuen2017 G
DPF3     4-0049-003chr14:
73158802-73158802
GAintronicDe novo--Trost2022 G
DPF3     2-1364-003chr14:
73262395-73262395
GCintronicDe novo--Yuen2017 G
DPF3     7-0288-004chr14:
73161946-73161946
TAintronicDe novo--Trost2022 G
DPF3     A21chr14:
73250584-73250584
GAintronicDe novo--Wu2018 G
DPF3     MSSNG00438-003chr14:
73087227-73087227
CTintronicDe novo--Trost2022 G
DPF3     1-0402-003chr14:
73194971-73194971
GCintronicDe novo--Trost2022 G
Yuen2017 G
DPF3     2-0149-004chr14:
73333431-73333437
GCACATGATGTGCAintronicDe novo--Trost2022 G
DPF3     1-0173-004chr14:
73333431-73333437
GCACATGATGTGCAintronicDe novo--Trost2022 G
DPF3     1-0173-004chr14:
73333424-73333425
CATGintronicDe novo--Trost2022 G
DPF3     2-1154-003chr14:
73315116-73315116
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
DPF3     1-0054-004chr14:
73333424-73333425
CATGintronicDe novo--Trost2022 G
DPF3     2-1759-003chr14:
73298263-73298263
CTintronicDe novo--Trost2022 G
DPF3     5-0055-004chr14:
73327101-73327101
GAintronicDe novo--Trost2022 G
Yuen2017 G
DPF3     SP0090491chr14:
73190299-73190299
CGintronicDe novo--Fu2022 E
DPF3     2-0149-004chr14:
73333424-73333425
CATGintronicDe novo--Trost2022 G
DPF3     5-0086-003chr14:
73249721-73249721
TCintronicDe novo--Trost2022 G
DPF3     1-0634-003chr14:
73283854-73283855
GCGintronicDe novo--Trost2022 G
DPF3     1-1038-003chr14:
73359828-73359828
GAintronicDe novo--Trost2022 G
DPF3     REACH000145chr14:
73339067-73339067
TAintronicDe novo--Trost2022 G
DPF3     3-0025-000chr14:
73341711-73341714
AGTGGGCAintronicDe novo--Trost2022 G
DPF3     63-343chr14:
73307939-73307939
GCintronicDe novo--Michaelson2012 G
DPF3     2-0305-003chr14:
73369287-73369287
GTintergenicDe novo--Yuen2017 G
DPF3     2-0003-003chr14:
73169382-73169382
CTintronicDe novo--Trost2022 G
Yuen2017 G
DPF3     2-1577-003chr14:
73251058-73251058
TCintronicDe novo--Trost2022 G
Yuen2017 G
DPF3     1-0673-003chr14:
73383179-73383179
TCintergenicDe novo--Yuen2017 G
DPF3     AU4476302chr14:
73384820-73384820
AGintergenicDe novo--Yuen2017 G
DPF3     5-0041-003chr14:
73142842-73142842
GAintronicDe novo--Trost2022 G
Yuen2017 G
DPF3     2-0273-003chr14:
73182816-73182816
CTintronicDe novo--Trost2022 G
Yuen2017 G
DPF3     1-0381-003chr14:
73280911-73280911
CTintronicDe novo--Trost2022 G
Yuen2017 G
DPF3     AU025704chr14:
73284851-73284853
AGGAGintronicDe 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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