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Results for "PDE3B"

Variant Events: 19

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
PDE3B     2-1277-004chr11:
14885147-14885149
ATCAintronicDe novo--Yuen2017 G
PDE3B     2-1359-004chr11:
14801293-14801293
GTintronicDe novo--Yuen2017 G
PDE3B     AU3849302chr11:
14761758-14761758
CGintronicDe novo--Yuen2017 G
PDE3B     1-0568-003chr11:
14690371-14690371
AGintronicDe novo--Yuen2017 G
PDE3B     2-1451-003chr11:
14822872-14822872
TCintronicDe novo--Yuen2017 G
PDE3B     iHART2998chr11:
14852310-14852312
CAGCexonicPaternalframeshift deletionNM_000922c.1875_1876delp.T625fs--Ruzzo2019 G
PDE3B     2-1693-003chr11:
14683185-14683185
CTintronicDe novo--Yuen2017 G
PDE3B     AU4435301chr11:
14759676-14759676
AGintronicDe novo--Yuen2017 G
PDE3B     iHART2997chr11:
14852310-14852312
CAGCexonicPaternalframeshift deletionNM_000922c.1875_1876delp.T625fs--Ruzzo2019 G
PDE3B     1-0436-003chr11:
14765070-14765070
GCintronicDe novo--Yuen2016 G
Yuen2017 G
PDE3B     PN400171chr11:
14891190-14891190
CAexonicDe novononsynonymous SNVNM_000922c.C3323Ap.A1108E8.122-Leblond2019 E
PDE3B     AU4164301chr11:
14870120-14870120
GAintronicDe novo--Yuen2017 G
PDE3B     AU2777302chr11:
14812257-14812257
TCintronicDe novo--Yuen2017 G
PDE3B     2-1369-003chr11:
14685356-14685356
CGintronicDe novo--Yuen2017 G
PDE3B     5-0137-003chr11:
14784345-14784345
GAintronicDe novo--Yuen2017 G
PDE3B     AU3725302chr11:
14758980-14758980
GAintronicDe novo--Yuen2017 G
PDE3B     2-1359-003chr11:
14801293-14801293
GTintronicDe novo--Yuen2017 G
PDE3B     1-0606-003chr11:
14759865-14759865
CTintronicDe novo--Yuen2017 G
PDE3B     AU071804chr11:
14692171-14692171
ACintronicDe 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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