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Results for "PTPN21"

Variant Events: 9

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
PTPN21     AU4089301chr14:
88962503-88962503
TCintronicDe novo--Yuen2017 G
PTPN21     AU009805chr14:
89010292-89010292
CTintronicDe novo--Yuen2017 G
PTPN21     2-0143-005chr14:
88945264-88945264
CAexonicDe novosynonymous SNVNM_007039c.G2511Tp.G837G--Yuen2015 G
PTPN21     AU3729301chr14:
89023627-89023627
TCintergenicDe novo--Yuen2017 G
PTPN21     AU3368302chr14:
89011317-89011317
AGintronicDe novo--Yuen2017 G
PTPN21     AU3790301chr14:
89008244-89008244
AGintronicDe novo--Yuen2017 G
PTPN21     AU4054301chr14:
89015711-89015711
TAintronicDe novo--Yuen2017 G
PTPN21     14590.p1chr14:
88934157-88934157
CGUTR3De novo--Turner2016 G
PTPN21     1-0841-003chr14:
88945801-88945801
GTexonicDe novosynonymous SNVNM_007039c.C1974Ap.S658S-1.783E-5Yuen2017 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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