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Results for "POLQ"

Variant Events: 14

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
POLQ     AU2000302chr3:
121172384-121172384
GTintronicDe novo--Yuen2017 G
POLQ     1-0367-003chr3:
121266133-121266133
GAintergenicDe novo--Yuen2017 G
POLQ     1-0459-003chr3:
121166121-121166121
GAintronicDe novo--Yuen2017 G
POLQ     AU4033304chr3:
121180566-121180566
AGintronicDe novo--Yuen2017 G
POLQ     SSC06885chr3:
121209103-121209103
AGexonicDe novononsynonymous SNVNM_199420c.T2675Cp.V892A14.23-Lim2017 E
POLQ     iHART1748chr3:
121230748-121230748
GAexonicPaternalstopgainNM_199420c.C1597Tp.R533X39.05.769E-5Ruzzo2019 G
POLQ     Lim2017:5311chr3:
121208072-121208072
TAexonicDe novononsynonymous SNVNM_199420c.A3706Tp.N1236Y6.928-Lim2017 E
POLQ     iHART1747chr3:
121230748-121230748
GAexonicPaternalstopgainNM_199420c.C1597Tp.R533X39.05.769E-5Ruzzo2019 G
POLQ     1-0203-004chr3:
121167528-121167528
ACintronicDe novo--Yuen2017 G
POLQ     11043.p1chr3:
121208072-121208072
TAexonicDe novononsynonymous SNVNM_199420c.A3706Tp.N1236Y6.928-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
POLQ     iHART2635chr3:
121203919-121203919
ACexonicPaternalstopgainNM_199420c.T5742Gp.Y1914X46.0-Ruzzo2019 G
POLQ     13256.p1chr3:
121209103-121209103
AGexonicDe novononsynonymous SNVNM_199420c.T2675Cp.V892A14.23-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
POLQ     NDAR_INVCD337RRG_wes1chr3:
121212507-121212507
TCexonicDe novosynonymous SNVNM_199420c.A2340Gp.Q780Q--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
POLQ     AU3302302chr3:
121255029-121255029
GAintronicDe novo--Yuen2017 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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