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Results for "PTPRF"

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
PTPRF     PN400367chr1:
44069636-44069636
CTexonicUnknownnonsynonymous SNVNM_130440
NM_002840
c.C2786T
c.C2813T
p.P929L
p.P938L
25.69.0E-4Leblond2019 E
PTPRF     01C05703chr1:
44075115-44075115
CAexonicDe novononsynonymous SNVNM_130440
NM_002840
c.C3892A
c.C3919A
p.L1298M
p.L1307M
16.02-Satterstrom2020 E
PTPRF     14460.p1chr1:
44019658-44019658
GAintronicDe novo-8.572E-6Satterstrom2020 E
PTPRF     PN400209chr1:
44069636-44069636
CTexonicUnknownnonsynonymous SNVNM_130440
NM_002840
c.C2786T
c.C2813T
p.P929L
p.P938L
25.69.0E-4Leblond2019 E
PTPRF     PN400434chr1:
44069636-44069636
CTexonicUnknownnonsynonymous SNVNM_130440
NM_002840
c.C2786T
c.C2813T
p.P929L
p.P938L
25.69.0E-4Leblond2019 E
PTPRF     08C72840chr1:
44072014-44072014
AGexonicDe novononsynonymous SNVNM_130440
NM_002840
c.A3560G
c.A3587G
p.E1187G
p.E1196G
7.673-Satterstrom2020 E
PTPRF     2-1183-003chr1:
44070296-44070296
CTintronicDe novo--Yuen2017 G
PTPRF     5-0015-003chr1:
44082410-44082410
CTintronicDe novo--Yuen2017 G
PTPRF     AU2035301chr1:
44036226-44036226
CTintronicDe novo--Yuen2017 G
PTPRF     21733-34496chr1:
44069557-44069557
GAexonicInheritednonsynonymous SNVNM_130440
NM_002840
c.G2707A
c.G2734A
p.E903K
p.E912K
27.3-Callaghan2019 G
PTPRF     10C105731chr1:
44078481-44078482
CACintronicDe novo--Satterstrom2020 E
PTPRF     3-0446-000chr1:
44032495-44032495
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRF     1-0201-004chr1:
44090176-44090176
GAdownstreamDe novo--Yuen2017 G
PTPRF     14626.p1chr1:
44056693-44056693
ACexonicDe novononsynonymous SNVNM_002840
NM_130440
c.A1000C
c.A1000C
p.S334R
p.S334R
19.01-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
PTPRF     1-0357-003chr1:
44039812-44039812
CGintronicDe novo--Yuen2017 G
PTPRF     14381.p1chr1:
44064524-44064524
GAexonicDe novosynonymous SNVNM_002840
NM_130440
c.G2253A
c.G2253A
p.L751L
p.L751L
10.56-Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PTPRF     11671.p1chr1:
44083205-44083205
CTexonicDe novosynonymous SNVNM_130440
NM_002840
c.C4134T
c.C4161T
p.Y1378Y
p.Y1387Y
9.4452.0E-4Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
PTPRF     1-0763-004chr1:
44023966-44023966
CAintronicDe novo--Yuen2017 G
PTPRF     Lim2017:37046chr1:
44056693-44056693
ACexonicDe novononsynonymous SNVNM_002840
NM_130440
c.A1000C
c.A1000C
p.S334R
p.S334R
19.01-Lim2017 E
PTPRF     AU2035302chr1:
44036226-44036226
CTintronicDe novo--Yuen2017 G
PTPRF     2-1348-003chr1:
44082221-44082221
CTintronicDe novo--Yuen2017 G
PTPRF     AU1933302chr1:
44048088-44048091
TCACTCintronicDe novo--Yuen2017 G
PTPRF     2-1338-003chr1:
44071780-44071780
GTintronicDe novo--Yuen2017 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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