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Results for "POLE"

Variant Events: 15

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     iHART1532chr12:
133249388-133249392
AAGGCAexonicPaternalframeshift deletionNM_006231c.1507_1510delp.A503fs--Ruzzo2019 G
POLE     Cukier2014:7637chr12:
133240613-133240613
CTexonicUnknownnonsynonymous SNVNM_006231c.G2683Ap.A895T29.64.0E-4Cukier2014 E
POLE     Cukier2014:17678chr12:
133252760-133252760
ACexonicUnknownnonsynonymous SNVNM_006231c.T940Gp.S314A17.418.245E-5Cukier2014 E
POLE     2-1296-003chr12:
133204146-133204146
ACintronicDe novo--Yuen2017 G
POLE     08C79227chr12:
133245220-133245220
CCCCACCCGsplicingDe novosplicing-8.306E-6Satterstrom2020 E
POLE     iHART1531chr12:
133249388-133249392
AAGGCAexonicPaternalframeshift deletionNM_006231c.1507_1510delp.A503fs--Ruzzo2019 G
POLE     iHART3272chr12:
133238251-133238251
TTGexonicPaternalframeshift insertionNM_006231c.2725dupCp.Q909fs--Ruzzo2019 G
POLE     AU3506302chr12:
133260544-133260550
CAGAGAGCAGAGintronicDe novo--Yuen2017 G
POLE     1-0547-003chr12:
133260544-133260550
CAGAGAGCAGAGintronicDe novo--Yuen2017 G
POLE     11792.p1chr12:
133207189-133207189
TTGintronicDe novo--Werling2018 G
POLE     1-0075-003chr12:
133229987-133229987
TAintronicDe novo--Yuen2017 G
POLE     2-1507-003chr12:
133226309-133226309
GAexonicDe novononsynonymous SNVNM_006231c.C3749Tp.P1250L16.15-Yuen2017 G
POLE     G01-GEA-335_HIchr12:
133214643-133214643
GAexonicDe novononsynonymous SNVNM_006231c.C5635Tp.R1879C20.78.237E-6Satterstrom2020 E
POLE     1-0569-003chr12:
133260544-133260550
CAGAGAGCAGAGintronicDe novo--Yuen2017 G
POLE     DEASD_0276_001chr12:
133219591-133219591
AGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
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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