or
or
Exact

Results for "POLE2"

Variant Events: 12

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
POLE2     AU4234302chr14:
50130049-50130049
GGCTexonicPaternalframeshift insertionNM_001197330
NM_001197331
NM_002692
c.660_661insAG
c.738_739insAG
c.738_739insAG
p.P221fs
p.P247fs
p.P247fs
--Cirnigliaro2023 G
POLE2     mAGRE5797chr14:
50114045-50114047
CTTCexonicPaternalframeshift deletionNM_001197330
NM_002692
c.1451_1452del
c.1529_1530del
p.K484fs
p.K510fs
-2.483E-5Cirnigliaro2023 G
POLE2     AU3806304 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
POLE2     SP0092269chr14:
50122461-50122461
TCexonicDe novononsynonymous SNVNM_001197330
NM_001197331
NM_002692
c.A778G
c.A856G
c.A856G
p.M260V
p.M286V
p.M286V
16.488.238E-6Trost2022 G
Zhou2022 GE
POLE2     iHART3295chr14:
50130049-50130049
GGCTexonicPaternalframeshift insertionNM_001197330
NM_001197331
NM_002692
c.660_661insAG
c.738_739insAG
c.738_739insAG
p.P221fs
p.P247fs
p.P247fs
--Ruzzo2019 G
POLE2     14423.p1chr14:
50131293-50131293
ACintronicDe novo--Satterstrom2020 E
POLE2     3-0447-000chr14:
50131296-50131296
TAintronicDe novo--Trost2022 G
Yuen2017 G
POLE2     AU1355301chr14:
50141721-50141721
TCintronicDe novo--Trost2022 G
Yuen2017 G
POLE2     MSSNG00019-003Achr14:
50153188-50153188
GAintronicDe novo--Trost2022 G
POLE2     2-0088-003chr14:
50133831-50133831
GAintronicDe novo--Trost2022 G
Yuen2017 G
POLE2     36177chr14:
50131293-50131293
ACintronicDe novo--Trost2022 G
POLE2     MT_184.3chr14:
50132113-50132113
AGintronicDe novo--Trost2022 G
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
More