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Results for "PTPRS"

Variant Events: 16

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
PTPRS     12335.p1chr19:
5216793-5216793
CCAintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
PTPRS     14520.p1chr19:
5218803-5218803
GAexonicDe novosynonymous SNVNM_130853
NM_130855
NM_130854
NM_002850
c.C2637T
c.C2649T
c.C3864T
c.C3930T
p.P879P
p.P883P
p.P1288P
p.P1310P
-5.076E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
PTPRS     AU3761302chr19:
5299319-5299319
TCintronicDe novo--Yuen2017 G
PTPRS     2-1715-004chr19:
5410359-5410359
CTintergenicDe novo--Yuen2017 G
PTPRS     EGAN00001101018chr19:
5220977-5220977
TGintronicDe novo-9.0E-4Satterstrom2020 E
PTPRS     2-1619-004chr19:
5313733-5313733
CGintronicDe novo--Yuen2017 G
PTPRS     AU0146302chr19:
5316426-5316426
CGintronicDe novo--Yuen2017 G
PTPRS     10C104604chr19:
5215447-5215447
GCintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
PTPRS     2-1718-003chr19:
5284831-5284831
CTintronicDe novo--Yuen2017 G
PTPRS     12603.p1chr19:
5225807-5225807
CAexonicDe novononsynonymous SNVNM_130854
NM_002850
c.G2359T
c.G2425T
p.V787L
p.V809L
18.56-Ji2016 E
Krumm2015 E
PTPRS     2-0310-003chr19:
5244975-5244975
GAintronicDe novo--Yuen2017 G
PTPRS     2-0022-005chr19:
5290066-5290066
CTintronicDe novo--Yuen2017 G
PTPRS     08C74840chr19:
5215293-5215293
GAintronicDe novo-7.0E-4Satterstrom2020 E
PTPRS     1-1000-003chr19:
5362342-5362342
GAintergenicDe novo--Yuen2017 G
PTPRS     AU075703chr19:
5313283-5313283
AGintronicDe novo--Yuen2017 G
PTPRS     Lim2017:37379chr19:
5218803-5218803
GAexonicDe novosynonymous SNVNM_130853
NM_130855
NM_130854
NM_002850
c.C2637T
c.C2649T
c.C3864T
c.C3930T
p.P879P
p.P883P
p.P1288P
p.P1310P
-5.076E-5Lim2017 E
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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