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Results for "POLA2"

Variant Events: 19

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
POLA2     13324.p1chr11:
65039481-65039481
AGintronicDe novo--Turner2016 G
POLA2     NDAR_INVRT684RNC_wes1chr11:
65061628-65061628
GCexonicDe novononsynonymous SNVNM_002689c.G1249Cp.G417R25.0-Lim2017 E
POLA2     AU4069302chr11:
65055253-65055254
ACAexonicPaternalframeshift deletionNM_002689c.1074delCp.D358fs--Cirnigliaro2023 G
POLA2     SSC10599chr11:
65048595-65048595
GAexonicDe novononsynonymous SNVNM_002689c.G877Ap.E293K22.0-Fu2022 E
Lim2017 E
Trost2022 G
POLA2     AU4069301chr11:
65055253-65055254
ACAexonicPaternalframeshift deletionNM_002689c.1074delCp.D358fs--Cirnigliaro2023 G
POLA2     AU4033303chr11:
65066418-65066421
ATTTATTdownstreamDe novo--Yuen2017 G
POLA2     1-0336-004chr11:
65033417-65033417
AGintronicDe novo--Trost2022 G
Yuen2017 G
POLA2     14101.p1chr11:
65048595-65048595
GAexonicMosaic, De novononsynonymous SNVNM_002689c.G877Ap.E293K22.0-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
POLA2     DEASD_0193_002chr11:
65063549-65063549
GTintronicDe novo--Satterstrom2020 E
Trost2022 G
POLA2     SMHC01833d000chr11:
65043451-65043451
CAexonicDe novononsynonymous SNVNM_002689c.C443Ap.P148Q23.3-Yuan2023 E
POLA2     AU3637301chr11:
65076745-65076745
GAintergenicDe novo--Yuen2017 G
POLA2     Wang2023:799chr11:
65047090-65047090
CAexonicDe novononsynonymous SNVNM_002689c.C737Ap.P246Q15.35-Wang2023 E
POLA2     SP0113349chr11:
65034130-65034130
CTexonicDe novononsynonymous SNVNM_002689c.C157Tp.H53Y13.08-Fu2022 E
Zhou2022 GE
POLA2     5-0015-003chr11:
65036463-65036463
GCintronicDe novo--Trost2022 G
Yuen2017 G
POLA2     1-0264-006chr11:
65052988-65052988
ATintronicDe novo--Trost2022 G
POLA2     2-1519-003chr11:
65054299-65054299
CGintronicDe novo--Trost2022 G
POLA2     5-5227-003chr11:
65040345-65040345
CTintronicDe novo--Trost2022 G
POLA2     3-0612-000chr11:
65047628-65047628
CTintronicDe novo--Trost2022 G
POLA2     SP0167910chr11:
65029744-65029744
GAUTR5De novo-4.761E-5Trost2022 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
Curation notesView
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