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Results for "PTPRZ1"

Variant Events: 15

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
PTPRZ1     200675290_1082034269chr7:
121684623-121684623
GTsplicingDe novosplicing22.7-Fu2022 E
PTPRZ1     2-1089-003chr7:
121705063-121705067
GAGTTGintergenicDe novo--Yuen2017 G
PTPRZ1     AU4433301 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
PTPRZ1     CC1134_202chr7:
121651598-121651598
GAexonicDe novononsynonymous SNVNM_002851c.G2498Ap.R833H0.6165.766E-5Fu2022 E
PTPRZ1     13971_p1chr7:
121624123-121624123
AGexonicDe novononsynonymous SNVNM_001206838
NM_001206839
NM_002851
c.A880G
c.A880G
c.A880G
p.R294G
p.R294G
p.R294G
9.873-Fu2022 E
PTPRZ1     13971.p1chr7:
121624123-121624123
AGexonicDe novononsynonymous SNVNM_001206838
NM_001206839
NM_002851
c.A880G
c.A880G
c.A880G
p.R294G
p.R294G
p.R294G
9.873-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
PTPRZ1     2-0149-004chr7:
121647400-121647400
TAintronicDe novo--Yuen2017 G
PTPRZ1     SP0039900chr7:
121674214-121674214
TTAATAGTCGCAintronicDe novo--Fu2022 E
PTPRZ1     1-0338-005chr7:
121633486-121633486
GAintronicDe novo--Yuen2017 G
PTPRZ1     2-0304-003chr7:
121598000-121598000
CTintronicDe novo--Yuen2017 G
PTPRZ1     CC1134.202chr7:
121651598-121651598
GAexonicDe novononsynonymous SNVNM_002851c.G2498Ap.R833H0.6165.766E-5Satterstrom2020 E
PTPRZ1     Chen2017:6chr7:
121684623-121684623
GTsplicingDe novosplicing22.7-Chen2017 E
PTPRZ1     3-0434-000chr7:
121683050-121683050
AGintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRZ1     200675290@1082034269chr7:
121684623-121684623
GTsplicingDe novosplicing22.7-Satterstrom2020 E
PTPRZ1     1-0190-003chr7:
121647938-121647938
GTintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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