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Results for "ZPBP"

Variant Events: 8

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
ZPBP     iHART2585chr7:
50121424-50121424
CAexonicPaternalstopgainNM_001159878
NM_007009
c.G280T
c.G280T
p.E94X
p.E94X
20.9-Ruzzo2019 G
ZPBP     iHART2584chr7:
50121424-50121424
CAexonicPaternalstopgainNM_001159878
NM_007009
c.G280T
c.G280T
p.E94X
p.E94X
20.9-Ruzzo2019 G
ZPBP     1-0296-003chr7:
50132251-50132251
GAintronicDe novo--Yuen2017 G
ZPBP     AU4465303chr7:
49989875-49989875
TCintronicDe novo--Yuen2017 G
ZPBP     14210.p1chr7:
50097727-50097727
GAexonicDe novosynonymous SNVNM_001159878
NM_007009
c.C342T
c.C345T
p.R114R
p.R115R
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ZPBP     2-1428-003chr7:
50026179-50026179
ATintronicDe novo--Yuen2016 G
Yuen2017 G
ZPBP     AU3913303chr7:
50058644-50058644
TCintronicDe novo--Yuen2017 G
ZPBP     11010.p1chr7:
50018317-50018317
CTintronicDe novo--Werling2018 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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