or
or
Exact

Results for "PTPN14"

Variant Events: 23

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
PTPN14     2-0306-003chr1:
214537699-214537699
ACintronicDe novo--Yuen2016 G
PTPN14     1-0382-004chr1:
214643090-214643090
GTintronicDe novo--Yuen2017 G
PTPN14     1-0045-003chr1:
214598198-214598198
CAintronicDe novo--Yuen2017 G
PTPN14     1-0323-004chr1:
214624507-214624507
TTTTGTTTTTGTTTTTGintronicDe novo--Yuen2017 G
PTPN14     2-1502-003chr1:
214723112-214723112
TCintronicDe novo--Yuen2017 G
PTPN14     2-0306-004chr1:
214537699-214537699
ACintronicDe novo--Yuen2017 G
PTPN14     2-1526-003chr1:
214608840-214608840
TTAintronicDe novo--Yuen2017 G
PTPN14     1-0201-005chr1:
214624507-214624507
TTTTGTTTTTGTTTTTGintronicDe novo--Yuen2017 G
PTPN14     1-0469-005chr1:
214565193-214565193
CGintronicDe novo--Yuen2017 G
PTPN14     SSC11148chr1:
214638045-214638045
CTexonicDe novosynonymous SNVNM_005401c.G102Ap.E34E--Lim2017 E
PTPN14     1-0232-004chr1:
214631828-214631828
CAintronicDe novo--Yuen2017 G
PTPN14     AU011903chr1:
214736499-214736499
GCintergenicDe novo--Yuen2017 G
PTPN14     AU2293301chr1:
214766120-214766124
ATTAGAintergenicDe novo--Yuen2017 G
PTPN14     5-0003-004chr1:
214560197-214560197
GAexonicDe novosynonymous SNVNM_005401c.C1056Tp.H352H--Yuen2017 G
PTPN14     1-0263-003chr1:
214748343-214748343
CGintergenicDe novo--Yuen2016 G
PTPN14     1-0052-004chr1:
214624507-214624507
TTTTGTTTTTGTTTTTGintronicDe novo--Yuen2017 G
PTPN14     1-0273-004chr1:
214555640-214555645
CAACTTCintronicDe novo--Yuen2017 G
PTPN14     2-1093-009chr1:
214624507-214624507
TTTTGTTTTTGTTTTTGintronicDe novo--Yuen2017 G
PTPN14     14213.p1chr1:
214638045-214638045
CTexonicDe novosynonymous SNVNM_005401c.G102Ap.E34E--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
PTPN14     7-0215-003chr1:
214606902-214606902
GAintronicDe novo--Yuen2017 G
PTPN14     iHART3090chr1:
214546069-214546069
CTexonicDe novononsynonymous SNVNM_005401c.G3021Ap.M1007I20.6-Ruzzo2019 G
PTPN14     DEASD_0262_001chr1:
214557735-214557735
GAexonicDe novononsynonymous SNVNM_005401c.C1463Tp.P488L24.22.471E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PTPN14     7-0222-003chr1:
214619817-214619817
TCintronicDe novo--Yuen2017 G
Source Variant Information

, -

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
More