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Results for "PTEN"

Variant Events: 101

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     Zhang2023:ASD0294chr10:
89711930-89711930
AAAexonicDe novoframeshift insertionNM_000314
NM_001304717
c.548dupA
c.1067dupA
p.K183fs
p.K356fs
--Zhang2023 G
PTEN     AU037503chr10:
89692977-89692977
TTTexonicMaternalframeshift insertionNM_000314
NM_001304717
c.461dupT
c.980dupT
p.F154fs
p.F327fs
--Zhou2019 T
PTEN     SP0125333chr10:
89692904-89692904
CTexonicDe novostopgainNM_000314
NM_001304717
c.C388T
c.C907T
p.R130X
p.R303X
48.08.237E-6Fu2022 E
Trost2022 G
Zhou2022 GE
PTEN     AU060803chr10:
89692920-89692920
TTTexonicPaternalframeshift insertionNM_000314
NM_001304717
c.404dupT
c.923dupT
p.I135fs
p.I308fs
--Zhou2019 T
PTEN     SP0025612chr10:
89685268-89685268
AGsplicingDe novosplicing17.98-Fu2022 E
Zhou2022 GE
PTEN     SSC09614chr10:
89692790-89692790
GAexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.G274A
c.G793A
p.D92N
p.D265N
33.0-Antaki2022 GE
Fu2022 E
Lim2017 E
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
Zhou2022 GE
PTEN     SSC11758chr10:
89692908-89692908
CTexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.C392T
c.C911T
p.T131I
p.T304I
27.8-Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G
PTEN     SP0124924chr10:
89693037-89693037
CAintronicDe novo--Fu2022 E
PTEN     1-0139-003chr10:
89894202-89894202
CTintergenicDe novo--Yuen2017 G
PTEN     SP0101112chr10:
89712008-89712008
GTexonicDe novononsynonymous SNVNM_000314
NM_001304718
NM_001304717
c.G626T
c.G35T
c.G1145T
p.G209V
p.G12V
p.G382V
22.2-Fu2022 E
Trost2022 G
Zhou2022 GE
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-Trost2022 G
Yuen2017 G
Zhou2022 GE
PTEN     1-0352-005chr10:
89949366-89949366
TAintergenicDe novo--Yuen2017 G
PTEN     08C76383chr10:
89692818-89692818
TCexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.T302C
c.T821C
p.I101T
p.I274T
23.4-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PTEN     151853chr10:
89692965-89692965
AGexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.A449G
c.A968G
p.E150G
p.E323G
28.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PTEN     2-1296-003chr10:
89667957-89667957
GAintronicDe novo--Trost2022 G
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     SP0010524chr10:
89624249-89624249
TAexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.T23A
c.T542A
p.I8N
p.I181N
17.75-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
PTEN     111299chr10:
89685300-89685300
CAexonicstopgainNM_000314
NM_001304717
c.C195A
c.C714A
p.Y65X
p.Y238X
49.0-Woodbury-Smith2022 E
PTEN     SP0010765chr10:
89692940-89692940
CTexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.C424T
c.C943T
p.R142W
p.R315W
24.18.242E-6Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
PTEN     SP0063977chr10:
89692919-89692919
ACexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.A403C
c.A922C
p.I135L
p.I308L
29.5-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
PTEN     1-0352-003chr10:
89949366-89949366
TAintergenicDe novo--Yuen2016 G
PTEN     SSC00881chr10:
89711882-89711882
CAexonicnonsynonymous SNVNM_000314
NM_001304717
c.C500A
c.C1019A
p.T167N
p.T340N
28.6-Antaki2022 GE
PTEN     AN01570chr10:
89685300-89685300
CAexonicUnknownstopgainNM_000314
NM_001304717
c.C195A
c.C714A
p.Y65X
p.Y238X
49.0-D’Gama2015 T
PTEN     SP0101364chr10:
89692995-89692995
CTexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.C479T
c.C998T
p.T160I
p.T333I
25.9-Antaki2022 GE
Fu2022 E
Zhou2022 GE
PTEN     Wang2023:730chr10:
89711900-89711900
GTexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.G518T
c.G1037T
p.R173L
p.R346L
35.0-Wang2023 E
PTEN     AU066206chr10:
89990377-89990377
AGintergenicDe 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--Trost2022 G
Yuen2017 G
PTEN     5-0116-003chr10:
89776888-89776888
TCintergenicDe novo--Yuen2017 G
PTEN     1-0203-003chr10:
89916446-89916446
CTintergenicDe novo--Yuen2017 G
PTEN     2-0002-005chr10:
89951899-89951899
TCintergenicDe 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
Zhou2022 GE
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
Zhou2022 GE
PTEN     3-0515-000chr10:
89638646-89638646
CTintronicDe novo--Trost2022 G
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
Lowther2023 G
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
PTEN     4-0007-003chr10:
89673662-89673662
CAintronicDe novo--Trost2022 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
Lowther2023 G
O’Roak2012a T
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
PTEN     2-1297-003chr10:
89634943-89634943
CAintronicDe novo--Trost2022 G
PTEN     1-0274-004chr10:
89630440-89630440
GAintronicDe novo--Yuen2017 G
PTEN     2-1625-003chr10:
89636710-89636710
TAintronicDe novo--Trost2022 G
PTEN     1-0414-005chr10:
89894205-89894205
GTintergenicDe novo--Yuen2017 G
PTEN     2-1297-003chr10:
89634929-89634940
ATTACATATAGTAintronicDe novo--Trost2022 G
PTEN     2-1693-003chr10:
89903924-89903933
AGTTGTTGTTAGTTGTTintergenicDe novo--Yuen2017 G
PTEN     2-1091-003chr10:
89730590-89730590
GAUTR3De novo--Trost2022 G
PTEN     AU2328301chr10:
89704914-89704914
CGintronicDe novo--Trost2022 G
PTEN     4-0073-003chr10:
89721374-89721376
CACATTintronicDe novo--Trost2022 G
PTEN     MT_40.3chr10:
89674197-89674197
ACintronicDe novo--Trost2022 G
PTEN     1027chr10:
89682945-89682945
AGintronicDe novo--Trost2022 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
--Trost2022 G
Yuen2017 G
Zhou2022 GE
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-Trost2022 G
Yuen2017 G
Zhou2022 GE
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
Zhou2022 GE
PTEN     Hu2022:45chr10:
89717672-89717672
CTexonicUnknownstopgainNM_000314
NM_001304718
NM_001304717
c.C697T
c.C106T
c.C1216T
p.R233X
p.R36X
p.R406X
48.0-Hu2022 T
PTEN     SP0172892chr10:
89653851-89653851
TCexonicnonsynonymous SNVNM_000314
NM_001304717
c.T149C
c.T668C
p.I50T
p.I223T
22.9-Zhou2022 GE
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     Schaaf2011:37chr10:
89690825-89690825
AGexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.A232G
c.A751G
p.T78A
p.T251A
12.12-Schaaf2011 T
PTEN     SP0119081chr10:
89720669-89720669
TGexonicnonsynonymous SNVNM_000314
NM_001304718
NM_001304717
c.T820G
c.T229G
c.T1339G
p.W274G
p.W77G
p.W447G
18.06-Zhou2022 GE
PTEN     1-1111-003chr10:
89690813-89690813
AGexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.A220G
c.A739G
p.R74G
p.R247G
23.7-Trost2022 G
Zhou2022 GE
PTEN     MSSNG00435-003chr10:
89653799-89653799
AGexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.A97G
c.A616G
p.I33V
p.I206V
17.13-Trost2022 G
Zhou2022 GE
PTEN     SP0317813chr10:
89692775-89692775
CTexonicstopgainNM_000314
NM_001304717
c.C259T
c.C778T
p.Q87X
p.Q260X
48.0-Zhou2022 GE
PTEN     SP0152615chr10:
89690847-89690847
GAsplicingsplicing24.8-Zhou2022 GE
PTEN     SP0181672chr10:
89711896-89711896
AGexonicnonsynonymous SNVNM_000314
NM_001304717
c.A514G
c.A1033G
p.R172G
p.R345G
24.0-Zhou2022 GE
PTEN     SP0234542chr10:
89711882-89711884
CTACexonicframeshift deletionNM_000314
NM_001304717
c.501_502del
c.1020_1021del
p.T167fs
p.T340fs
--Zhou2022 GE
PTEN     SP0032180chr10:
89725042-89725042
AGsplicingsplicing15.16-Zhou2022 GE
PTEN     7-0250-003Achr10:
89717698-89717698
TGexonicDe novononsynonymous SNVNM_000314
NM_001304718
NM_001304717
c.T723G
c.T132G
c.T1242G
p.F241L
p.F44L
p.F414L
11.36-Trost2022 G
Zhou2022 GE
PTEN     03C16365chr10:
89685315-89685319
GTAAGGsplicingInheritedsplicing--Stessman2017 T
PTEN     SP0032181chr10:
89725042-89725042
AGsplicingsplicing15.16-Zhou2022 GE
PTEN     AU2216201chr10:
89692836-89692836
ATexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.A320T
c.A839T
p.D107V
p.D280V
25.2-Trost2022 G
Zhou2022 GE
PTEN     1-0164-003chr10:
89692818-89692818
TCexonicnonsynonymous SNVNM_000314
NM_001304717
c.T302C
c.T821C
p.I101T
p.I274T
23.4-Zhou2022 GE
PTEN     3-0197-000chr10:
89711876-89711876
GTexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.G494T
c.G1013T
p.G165V
p.G338V
27.4-Chan2022 G
Trost2022 G
Zhou2022 GE
PTEN     3-0648-000chr10:
89711873-89711873
AGsplicingDe novosplicing19.66-Trost2022 G
Zhou2022 GE
PTEN     1-0539-003chr10:
89894202-89894202
CTintergenicDe novo--Yuen2017 G
PTEN     EX17Achr10:
89692971-89692971
TAexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.T455A
c.T974A
p.L152Q
p.L325Q
26.0-Fu2022 E
PTEN     6233chr10:
89711882-89711882
CAexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.C500A
c.C1019A
p.T167N
p.T340N
28.6-Fu2022 E
Trost2022 G
PTEN     161450chr10:
89690836-89690836
TGexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.T243G
c.T762G
p.F81L
p.F254L
35.0-Fu2022 E
PTEN     3-0209-000chr10:
89821944-89821944
GTintergenicDe novo--Yuen2017 G
PTEN     08C72370chr10:
89692836-89692836
ATexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.A320T
c.A839T
p.D107V
p.D280V
25.2-Fu2022 E
PTEN     2-0182-003chr10:
89894202-89894202
CTintergenicDe novo--Yuen2017 G
PTEN     1-0638-003chr10:
89768326-89768326
AGintergenicDe novo--Yuen2017 G
PTEN     Wang2023:898chr10:
89692982-89692982
GAexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.G466A
c.G985A
p.G156R
p.G329R
30.0-Wang2023 E
PTEN     137862chr10:
89690802-89690802
GAsplicingInheritedsplicing24.1-Stessman2017 T
PTEN     AGG0314chr10:
89711927-89711928
TATexonicDe novoframeshift deletionNM_000314
NM_001304717
c.546delA
c.1065delA
p.L182fs
p.L355fs
--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PTEN     5-0083-003chr10:
89665823-89665823
CTintronicDe novo--Yuen2017 G
PTEN     2-0299-005chr10:
89755194-89755194
GAintergenicDe 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     1264011chr10:
89624245-89624245
GTexonicDe novostopgainNM_000314
NM_001304717
c.G19T
c.G538T
p.E7X
p.E180X
49.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PTEN     1-0901-003chr10:
89911039-89911039
AGintergenicDe 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     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     SMHC00996s000chr10:
89692904-89692904
CTexonicDe novostopgainNM_000314
NM_001304717
c.C388T
c.C907T
p.R130X
p.R303X
48.08.237E-6Yuan2023 E
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
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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

, -

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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