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Results for "PAPOLG"

Variant Events: 8

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
PAPOLG     AU166Achr2:
61014164-61014164
CAexonicDe novononsynonymous SNVNM_022894c.C1249Ap.P417T27.4-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PAPOLG     08C74187chr2:
61006893-61006893
TGexonicDe novononsynonymous SNVNM_022894c.T816Gp.F272L22.58.24E-6Satterstrom2020 E
PAPOLG     13630.p1chr2:
60988862-60988863
ATAintronicDe novo-0.0028Krumm2015 E
PAPOLG     2-1485-004chr2:
61009060-61009060
CTexonicDe novononsynonymous SNVNM_022894c.C947Tp.T316I32.08.238E-6Yuen2017 G
PAPOLG     iHART1807chr2:
61021851-61021851
CTexonicPaternalstopgainNM_022894c.C1996Tp.R666X40.01.657E-5Ruzzo2019 G
PAPOLG     AU069603chr2:
61004269-61004269
GAintronicDe novo--Yuen2017 G
PAPOLG     2-1633-003chr2:
61000154-61000154
GAintronicDe novo--Yuen2017 G
PAPOLG     2-1485-003chr2:
61009060-61009060
CTexonicDe novononsynonymous SNVNM_022894c.C947Tp.T316I32.08.238E-6Yuen2017 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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