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Results for "PTPN13"

Variant Events: 14

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
PTPN13     12528.p1chr4:
87718120-87718120
GAintronicDe novo-2.0E-4Iossifov2014 E
Kosmicki2017 E
PTPN13     13069.p1chr4:
87741946-87741946
CTintergenicDe novo--Turner2016 G
PTPN13     09C98906chr4:
87705622-87705622
CGexonicDe novononsynonymous SNVNM_080684
NM_006264
NM_080683
NM_080685
c.C5456G
c.C5972G
c.C6029G
c.C6044G
p.A1819G
p.A1991G
p.A2010G
p.A2015G
3.4451.0E-4DeRubeis2014 E
Kosmicki2017 E
PTPN13     SP0001854chr4:
87643520-87643520
TCexonicDe novononsynonymous SNVNM_006264
NM_080683
NM_080684
NM_080685
c.T1541C
c.T1541C
c.T1541C
c.T1541C
p.L514P
p.L514P
p.L514P
p.L514P
20.4-Feliciano2019 E
PTPN13     iHART1220chr4:
87691137-87691137
GCsplicingPaternalsplicing25.2-Ruzzo2019 G
PTPN13     iHART1221chr4:
87691137-87691137
GCsplicingPaternalsplicing25.2-Ruzzo2019 G
PTPN13     A4chr4:
87654760-87654760
AGintronicDe novo--Wu2018 G
PTPN13     1-0453-003chr4:
87680293-87680293
TCintronicDe novo--Yuen2017 G
PTPN13     Lim2017:68584chr4:
87696594-87696594
GAsplicingDe novosplicing18.62-Lim2017 E
PTPN13     7-0095-004chr4:
87533594-87533594
TCintronicDe novo--Yuen2017 G
PTPN13     3-0330-000chr4:
87705691-87705691
CAexonicDe novononsynonymous SNVNM_080684
NM_006264
NM_080683
NM_080685
c.C5525A
c.C6041A
c.C6098A
c.C6113A
p.P1842Q
p.P2014Q
p.P2033Q
p.P2038Q
0.028-Tammimies2015 E
PTPN13     AU4234302chr4:
87590990-87590990
TGintronicDe novo--Yuen2017 G
PTPN13     1-0547-003chr4:
87564166-87564166
GCintronicDe novo--Yuen2017 G
PTPN13     11453.p1chr4:
87696594-87696594
GAsplicingDe novosplicing18.62-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 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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