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Results for "PTEN"

Variant Events: 57

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
PTEN     2-0149-003chr10:
89894172-89894172
GGCTintergenicDe novo--Yuen2017 G
PTEN     2-1693-003chr10:
89903924-89903933
AGTTGTTGTTAGTTGTTintergenicDe novo--Yuen2017 G
PTEN     2-1318-004chr10:
89624277-89624280
AGAGAexonicDe novononframeshift deletionNM_000314
NM_001304717
c.52_54del
c.571_573del
p.18_18del
p.191_191del
--Yuen2017 G
PTEN     AU037503chr10:
89692977-89692977
TTTexonicMaternalframeshift insertionNM_000314
NM_001304717
c.461dupT
c.980dupT
p.F154fs
p.F327fs
--Zhou2019 T
PTEN     AU060803chr10:
89692920-89692920
TTTexonicPaternalframeshift insertionNM_000314
NM_001304717
c.404dupT
c.923dupT
p.I135fs
p.I308fs
--Zhou2019 T
PTEN     SSC09614chr10:
89692790-89692790
GAexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.G274A
c.G793A
p.D92N
p.D265N
33.0-Lim2017 E
PTEN     2-1223-003chr10:
89717698-89717698
TGexonicDe novononsynonymous SNVNM_000314
NM_001304718
NM_001304717
c.T723G
c.T132G
c.T1242G
p.F241L
p.F44L
p.F414L
11.36-Yuen2017 G
PTEN     7-0250-003chr10:
89717698-89717698
TGexonicDe novononsynonymous SNVNM_000314
NM_001304718
NM_001304717
c.T723G
c.T132G
c.T1242G
p.F241L
p.F44L
p.F414L
11.36-Yuen2017 G
PTEN     Lim2017:6233chr10:
89711882-89711882
CAexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.C500A
c.C1019A
p.T167N
p.T340N
28.6-Lim2017 E
PTEN     iHART2334chr10:
89692818-89692818
TCexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.T302C
c.T821C
p.I101T
p.I274T
23.4-Ruzzo2019 G
PTEN     AU3915301chr10:
89692961-89692961
CTexonicDe novostopgainNM_000314
NM_001304717
c.C445T
c.C964T
p.Q149X
p.Q322X
48.0-Yuen2017 G
PTEN     SSC11758chr10:
89692908-89692908
CTexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.C392T
c.C911T
p.T131I
p.T304I
27.8-Lim2017 E
PTEN     1-0139-003chr10:
89894202-89894202
CTintergenicDe novo--Yuen2017 G
PTEN     AU0146301chr10:
89919864-89919864
TCintergenicDe novo--Yuen2017 G
PTEN     1-0579-003chr10:
89717712-89717712
CTexonicDe novononsynonymous SNVNM_000314
NM_001304718
NM_001304717
c.C737T
c.C146T
c.C1256T
p.P246L
p.P49L
p.P419L
19.43-Yuen2017 G
PTEN     Schaaf2011:38chr10:
89712000-89712000
CGexonicUnknownnonsynonymous SNVNM_000314
NM_001304718
NM_001304717
c.C618G
c.C27G
c.C1137G
p.F206L
p.F9L
p.F379L
16.87-Schaaf2011 T
PTEN     1-0352-005chr10:
89949366-89949366
TAintergenicDe novo--Yuen2017 G
PTEN     Schaaf2011:37chr10:
89690825-89690825
AGexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.A232G
c.A751G
p.T78A
p.T251A
12.12-Schaaf2011 T
PTEN     08C76383chr10:
89692818-89692818
TCexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.T302C
c.T821C
p.I101T
p.I274T
23.4-Satterstrom2020 E
PTEN     151853chr10:
89692965-89692965
AGexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.A449G
c.A968G
p.E150G
p.E323G
28.0-Satterstrom2020 E
PTEN     03C16365chr10:
89685315-89685319
GTAAGGsplicingInheritedsplicing--Stessman2017 T
PTEN     1-0539-003chr10:
89894202-89894202
CTintergenicDe novo--Yuen2017 G
PTEN     2-1296-003chr10:
89667957-89667957
GAintronicDe novo--Yuen2017 G
PTEN     3-0209-000chr10:
89821944-89821944
GTintergenicDe novo--Yuen2017 G
PTEN     2-0182-003chr10:
89894202-89894202
CTintergenicDe novo--Yuen2017 G
PTEN     1chr10:
89717712-89717712
CTexonicDe novononsynonymous SNVNM_000314
NM_001304718
NM_001304717
c.C737T
c.C146T
c.C1256T
p.P246L
p.P49L
p.P419L
19.43-Du2018 E
PTEN     1-0638-003chr10:
89768326-89768326
AGintergenicDe novo--Yuen2017 G
PTEN     1-0352-003chr10:
89949366-89949366
TAintergenicDe novo--Yuen2016 G
PTEN     137862chr10:
89690802-89690802
GAsplicingInheritedsplicing24.1-Stessman2017 T
PTEN     AN01570chr10:
89685300-89685300
CAexonicUnknownstopgainNM_000314
NM_001304717
c.C195A
c.C714A
p.Y65X
p.Y238X
49.0-D’Gama2015 T
PTEN     AU066206chr10:
89990377-89990377
AGintergenicDe novo--Yuen2017 G
PTEN     AGG0314chr10:
89711927-89711928
TATexonicDe novoframeshift deletionNM_000314
NM_001304717
c.546delA
c.1065delA
p.L182fs
p.L355fs
--Satterstrom2020 E
PTEN     5-0083-003chr10:
89665823-89665823
CTintronicDe novo--Yuen2017 G
PTEN     2-0299-005chr10:
89755194-89755194
GAintergenicDe novo--Yuen2017 G
PTEN     AU4212303chr10:
89790199-89790199
CTintergenicDe novo--Yuen2017 G
PTEN     Lee2020:46chr10:
89690842-89690842
CAexonicstopgainNM_000314
NM_001304717
c.C249A
c.C768A
p.C83X
p.C256X
48.0-Lee2020 T
PTEN     2-1362-003chr10:
89710111-89710111
TCintronicDe novo--Yuen2017 G
PTEN     Schaaf2011:104chr10:
89690798-89690803
TTTAGTTexonicUnknownframeshift deletionNM_000314
NM_001304717
c.210_210del
c.729_729del
p.L70fs
p.L243fs
--Schaaf2011 T
PTEN     5-0116-003chr10:
89776888-89776888
TCintergenicDe novo--Yuen2017 G
PTEN     1-0203-003chr10:
89916446-89916446
CTintergenicDe novo--Yuen2017 G
PTEN     1264011chr10:
89624245-89624245
GTexonicDe novostopgainNM_000314
NM_001304717
c.G19T
c.G538T
p.E7X
p.E180X
49.0-Satterstrom2020 E
PTEN     1-0901-003chr10:
89911039-89911039
AGintergenicDe novo--Yuen2017 G
PTEN     2-0002-005chr10:
89951899-89951899
TCintergenicDe novo--Yuen2017 G
PTEN     1-0158-012chr10:
89649287-89649287
AAAGTintronicDe novo--Yuen2017 G
PTEN     13314.p1chr10:
89839953-89839953
AGintergenicDe novo--Werling2018 G
PTEN     1-0219-003chr10:
89726672-89726672
TTGUTR3De novo--Yuen2017 G
PTEN     14611.p1chr10:
89692920-89692920
TTAexonicDe novoframeshift insertionNM_000314
NM_001304717
c.405dupA
c.924dupA
p.I135fs
p.I308fs
--O’Roak2012a T
O’Roak2014 T
PTEN     12517.p1chr10:
89717615-89717615
CTexonicMaternalstopgainNM_000314
NM_001304718
NM_001304717
c.C640T
c.C49T
c.C1159T
p.Q214X
p.Q17X
p.Q387X
49.0-O’Roak2012a T
PTEN     13991.p1chr10:
89692790-89692790
GAexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.G274A
c.G793A
p.D92N
p.D265N
33.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2014 T
Wilfert2021 G
PTEN     M21723chr10:
89717650-89717650
TGexonicUnknownstopgainNM_000314
NM_001304718
NM_001304717
c.T675G
c.T84G
c.T1194G
p.Y225X
p.Y28X
p.Y398X
48.0-Guo2018 T
PTEN     14433.p1chr10:
89692908-89692908
CTexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.C392T
c.C911T
p.T131I
p.T304I
27.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
PTEN     11390.p1chr10:
89711882-89711882
CAexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.C500A
c.C1019A
p.T167N
p.T340N
28.6-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012a T
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
PTEN     1-0274-004chr10:
89630440-89630440
GAintronicDe novo--Yuen2017 G
PTEN     1-0414-005chr10:
89894205-89894205
GTintergenicDe novo--Yuen2017 G
PTEN     211-5447-3chr10:
89692818-89692818
TCexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.T302C
c.T821C
p.I101T
p.I274T
23.4-O’Roak2014 T
PTEN     AU065Achr10:
89711874-89711874
GAsplicingDe novosplicing21.2-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PTEN     217-14246-3700chr10:
89692836-89692836
ATexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.A320T
c.A839T
p.D107V
p.D280V
25.2-O’Roak2014 T
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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