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Results for "PTPN7"

Variant Events: 7

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
PTPN7     AU1988301chr1:
202116369-202116369
GAUTR3De novo--Yuen2017 G
PTPN7     iHART1339chr1:
202129719-202129719
GAexonicPaternalstopgainNM_002832c.C217Tp.Q73X45.02.0E-4Ruzzo2019 G
PTPN7     14581.p1chr1:
202119524-202119524
TCexonicMosaic, De novononsynonymous SNVNM_080588
NM_001199797
NM_002832
c.A1021G
c.A1126G
c.A1219G
p.I341V
p.I376V
p.I407V
20.9-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
PTPN7     iHART2412chr1:
202129795-202129795
CTexonicPaternalstopgainNM_002832c.G141Ap.W47X45.0-Ruzzo2019 G
PTPN7     iHART2410chr1:
202129795-202129795
CTexonicPaternalstopgainNM_002832c.G141Ap.W47X45.0-Ruzzo2019 G
PTPN7     7-0140-003chr1:
202125783-202125783
ATintronicDe novo--Yuen2017 G
PTPN7     Lim2017:70524chr1:
202119524-202119524
TCexonicDe novononsynonymous SNVNM_080588
NM_001199797
NM_002832
c.A1021G
c.A1126G
c.A1219G
p.I341V
p.I376V
p.I407V
20.9-Lim2017 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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