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Results for "POLA2"

Variant Events: 9

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     SSC10599chr11:
65048595-65048595
GAexonicDe novononsynonymous SNVNM_002689c.G877Ap.E293K22.0-Lim2017 E
POLA2     5-0015-003chr11:
65036463-65036463
GCintronicDe novo--Yuen2017 G
POLA2     AU4033303chr11:
65066418-65066421
ATTTATTdownstreamDe novo--Yuen2017 G
POLA2     1-0336-004chr11:
65033417-65033417
AGintronicDe novo--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
POLA2     DEASD_0193_002chr11:
65063549-65063549
GTintronicDe novo--Satterstrom2020 E
POLA2     AU3637301chr11:
65076745-65076745
GAintergenicDe 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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