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Results for "PDZRN3"

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
PDZRN3     2-1220-003chr3:
73459394-73459394
TCintronicDe novo--Yuen2016 G
Yuen2017 G
PDZRN3     2-1292-004chr3:
73557946-73557946
TCintronicDe novo--Yuen2017 G
PDZRN3     08C72349chr3:
73432600-73432600
CAexonicDe novosynonymous SNVNM_001303139
NM_001303140
NM_001303141
NM_001303142
NM_015009
c.G2211T
c.G2088T
c.G2283T
c.G2268T
c.G3117T
p.T737T
p.T696T
p.T761T
p.T756T
p.T1039T
0.009-Satterstrom2020 E
PDZRN3     DEASD_0341_001chr3:
73450062-73450062
GAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
PDZRN3     AU4033303chr3:
73555632-73555632
TCintronicDe novo--Yuen2017 G
PDZRN3     5-0083-003chr3:
73649594-73649594
TCintronicDe novo--Yuen2017 G
PDZRN3     1-0261-003chr3:
73454398-73454398
ATintronicDe novo--Yuen2017 G
PDZRN3     2-1366-004chr3:
73446240-73446240
GAintronicDe novo--Yuen2017 G
PDZRN3     AU4054301chr3:
73626690-73626690
GAintronicDe novo--Yuen2017 G
PDZRN3     14153.p1chr3:
73466992-73466992
TCintronicDe novo--Turner2016 G
PDZRN3     A13chr3:
73549493-73549493
CAintronicDe novo--Wu2018 G
PDZRN3     2-1290-004chr3:
73555173-73555173
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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