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Results for "POLE"

Variant Events: 48

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
POLE     4304_16mrchr12:
133251895-133251895
TGintronicDe novo--Fu2022 E
POLE     2-1296-003chr12:
133204146-133204146
ACintronicDe novo--Trost2022 G
Yuen2017 G
POLE     1-0075-003chr12:
133229987-133229987
TAintronicDe novo--Trost2022 G
Yuen2017 G
POLE     SP0140612chr12:
133202426-133202426
ACintronicDe novo--Trost2022 G
POLE     2-1296-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
POLE     SP0082985chr12:
133202426-133202426
ACintronicDe novo--Trost2022 G
POLE     SP0094948chr12:
133202426-133202426
ACintronicDe novo--Trost2022 G
POLE     DEASD_0276_001chr12:
133219591-133219591
AGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
POLE     SP0044997chr12:
133202426-133202426
ACintronicDe novo--Trost2022 G
POLE     SP0068516chr12:
133226506-133226506
ACintronicDe novo--Trost2022 G
POLE     iHART1532chr12:
133249388-133249392
AAGGCAexonicPaternalframeshift deletionNM_006231c.1507_1510delp.A503fs--Ruzzo2019 G
POLE     SP0101393chr12:
133226506-133226506
ACintronicDe novo--Trost2022 G
POLE     Cukier2014:7637chr12:
133240613-133240613
CTexonicUnknownnonsynonymous SNVNM_006231c.G2683Ap.A895T29.64.0E-4Cukier2014 E
POLE     SP0065253chr12:
133226506-133226506
ACintronicDe novo--Trost2022 G
POLE     Cukier2014:17678chr12:
133252760-133252760
ACexonicUnknownnonsynonymous SNVNM_006231c.T940Gp.S314A17.418.245E-5Cukier2014 E
POLE     SP0065860chr12:
133226506-133226506
ACintronicDe novo--Trost2022 G
POLE     SP0023871chr12:
133226506-133226506
ACintronicDe novo--Trost2022 G
POLE     08C79227chr12:
133245220-133245220
CCCCACCCGsplicingDe novosplicing-8.306E-6Satterstrom2020 E
Trost2022 G
Zhou2022 GE
POLE     SP0025074chr12:
133226506-133226506
ACintronicDe novo--Trost2022 G
POLE     iHART1531chr12:
133249388-133249392
AAGGCAexonicPaternalframeshift deletionNM_006231c.1507_1510delp.A503fs--Ruzzo2019 G
POLE     2-1296-003chr12:
133204170-133204170
TCintronicDe novo--Trost2022 G
POLE     iHART3272chr12:
133238251-133238251
TTGexonicPaternalframeshift insertionNM_006231c.2725dupCp.Q909fs--Ruzzo2019 G
POLE     3-0223-000chr12:
133213729-133213729
GAintronicDe novo--Trost2022 G
POLE     SP0056881chr12:
133251895-133251895
TGintronicDe novo--Trost2022 G
POLE     AU3506302chr12:
133260544-133260550
CAGAGAGCAGAGintronicDe novo--Yuen2017 G
POLE     SP0135935chr12:
133251895-133251895
TGintronicDe novo--Trost2022 G
POLE     1-0547-003chr12:
133260544-133260550
CAGAGAGCAGAGintronicDe novo--Yuen2017 G
POLE     SP0044699chr12:
133251895-133251895
TGintronicDe novo--Trost2022 G
POLE     SP0045097chr12:
133251895-133251895
TGintronicDe novo--Trost2022 G
POLE     5-5069-003chr12:
133245138-133245138
GAintronicDe novo-8.735E-6Trost2022 G
POLE     SP0031250chr12:
133251895-133251895
TGintronicDe novo--Trost2022 G
POLE     SP0131774chr12:
133226506-133226506
ACintronicDe novo--Trost2022 G
POLE     1-1063-004chr12:
133238866-133238866
ATintronicDe novo--Trost2022 G
POLE     11792.p1chr12:
133207189-133207189
TTGintronicDe novo--Werling2018 G
POLE     2-1507-003chr12:
133226309-133226309
GAexonicDe novononsynonymous SNVNM_006231c.C3749Tp.P1250L16.15-Trost2022 G
Yuen2017 G
Zhou2022 GE
POLE     G01-GEA-335_HIchr12:
133214643-133214643
GAexonicDe novononsynonymous SNVNM_006231c.C5635Tp.R1879C20.78.237E-6Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
POLE     5-1003-003chr12:
133253311-133253311
GAintronicDe novo--Trost2022 G
POLE     2-1493-003chr12:
133257921-133257921
CCTTTTTTACTintronicDe novo--Trost2022 G
POLE     1-0569-003chr12:
133260544-133260550
CAGAGAGCAGAGintronicDe novo--Yuen2017 G
POLE     SP0054108chr12:
133226205-133226205
GAintronicDe novo--Fu2022 E
Trost2022 G
POLE     SP0134520chr12:
133250212-133250212
GAexonicDe novosynonymous SNVNM_006231c.C1308Tp.P436P-1.65E-5Fu2022 E
Trost2022 G
Zhou2022 GE
POLE     mAGRE1532chr12:
133249388-133249392
AAGGCAexonicPaternalframeshift deletionNM_006231c.1507_1510delp.A503fs--Cirnigliaro2023 G
POLE     mAGRE1531chr12:
133249388-133249392
AAGGCAexonicPaternalframeshift deletionNM_006231c.1507_1510delp.A503fs--Cirnigliaro2023 G
POLE     mAGRE5473chr12:
133249257-133249257
CAexonicPaternalstopgainNM_006231c.G1642Tp.E548X38.0-Cirnigliaro2023 G
POLE     SP0119199chr12:
133219144-133219144
GAexonicDe novononsynonymous SNVNM_006231c.C4900Tp.R1634C20.21.655E-5Fu2022 E
Zhou2022 GE
POLE     mAGRE5472chr12:
133249257-133249257
CAexonicPaternalstopgainNM_006231c.G1642Tp.E548X38.0-Cirnigliaro2023 G
POLE     SP0022160chr12:
133244178-133244178
TCexonicDe novononsynonymous SNVNM_006231c.A2230Gp.T744A20.5-Fu2022 E
Trost2022 G
Zhou2022 GE
POLE     AU4056301chr12:
133238251-133238251
TTGexonicPaternalframeshift insertionNM_006231c.2725dupCp.Q909fs--Cirnigliaro2023 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
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