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Results for "PDE3A"

Variant Events: 26

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
PDE3A     AU3703302chr12:
20697446-20697446
CAintronicDe novo--Yuen2017 G
PDE3A     5-0133-003chr12:
20657271-20657286
GAGTCTGATACATTTTGintronicDe novo--Yuen2017 G
PDE3A     5-0077-004chr12:
20707312-20707312
AATintronicDe novo--Yuen2017 G
PDE3A     1-0367-003chr12:
20787487-20787487
GAintronicDe novo--Yuen2017 G
PDE3A     2-1318-004chr12:
20704688-20704688
GGAintronicDe novo--Yuen2017 G
PDE3A     08C76519chr12:
20807092-20807092
CTexonicDe novononsynonymous SNVNM_001244683
NM_000921
c.C2171T
c.C3137T
p.A724V
p.A1046V
2.448-Satterstrom2020 E
PDE3A     1-0568-003chr12:
20607370-20607370
CAintronicDe novo--Yuen2017 G
PDE3A     AU2792302chr12:
20534712-20534712
TCintronicDe novo--Yuen2017 G
PDE3A     2-1425-003chr12:
20774159-20774159
CAintronicDe novo--Yuen2017 G
PDE3A     AU2140306chr12:
20745854-20745854
GAintronicDe novo--Yuen2017 G
PDE3A     1-0272-003chr12:
20696212-20696216
CCTAACintronicDe novo--Yuen2017 G
PDE3A     2-1485-003chr12:
20704727-20704727
GGTTGGTGTGCintronicDe novo--Yuen2017 G
PDE3A     2-0149-005chr12:
20704707-20704707
AAGintronicDe novo--Yuen2017 G
PDE3A     1-0354-006chr12:
20704707-20704707
AAGintronicDe novo--Yuen2017 G
PDE3A     1-0377-003chr12:
20807092-20807092
CTexonicDe novononsynonymous SNVNM_001244683
NM_000921
c.C2171T
c.C3137T
p.A724V
p.A1046V
2.448-Yuen2017 G
PDE3A     AU3371301chr12:
20721008-20721008
AGintronicDe novo--Yuen2017 G
PDE3A     2-1180-003chr12:
20792026-20792026
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PDE3A     2-0135-003chr12:
20704678-20704678
TTCGintronicDe novo--Yuen2017 G
PDE3A     AU3635301chr12:
20763582-20763582
CTintronicDe novo--Yuen2017 G
PDE3A     1-0272-004chr12:
20696212-20696216
CCTAACintronicDe novo--Yuen2017 G
PDE3A     74-0265chr12:
20809162-20809162
CAintronicDe novo--Michaelson2012 G
PDE3A     AU3874301chr12:
20726044-20726044
TGintronicDe novo--Yuen2017 G
PDE3A     1-0169-003chr12:
20652101-20652101
AGintronicDe novo--Yuen2017 G
PDE3A     1-0181-004chr12:
20671875-20671875
AGintronicDe novo--Yuen2017 G
PDE3A     2-1644-003chr12:
20690520-20690520
GAintronicDe novo--Yuen2017 G
PDE3A     1-0715-003chr12:
20546860-20546861
AGAintronicDe 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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