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Results for "POLRMT"

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
POLRMT     AU1829302chr19:
621079-621079
GAexonicDe novosynonymous SNVNM_005035c.C2619Tp.D873D-3.0E-4Fu2022 E
Satterstrom2020 E
POLRMT     13333.p1chr19:
630058-630058
GAexonicDe novostopgainNM_005035c.C304Tp.Q102X17.42-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
POLRMT     SP0094468chr19:
623415-623415
GCintronicDe novo--Fu2022 E
POLRMT     SP0064065chr19:
622365-622365
CAexonicDe novononsynonymous SNVNM_005035c.G1635Tp.E545D0.768-Fu2022 E
POLRMT     G01-GEA-185-HIchr19:
618717-618717
CTexonicDe novononsynonymous SNVNM_005035c.G3311Ap.G1104E9.758-Fu2022 E
Satterstrom2020 E
POLRMT     6251chr19:
630058-630058
GAexonicDe novostopgainNM_005035c.C304Tp.Q102X17.42-Fu2022 E
POLRMT     TRE_182chr19:
618503-618503
GAexonicDe novononsynonymous SNVNM_005035c.C3407Tp.A1136V16.74-Fu2022 E
POLRMT     SP0032540chr19:
619271-619275
TAGTGTexonicDe novoframeshift deletionNM_005035c.3088_3091delp.H1030fs--Fu2022 E
POLRMT     SP0011082chr19:
625175-625175
GAexonicDe novononsynonymous SNVNM_005035c.C902Tp.A301V10.5-Fu2022 E
POLRMT     TAS_F0221Ychr19:
619332-619332
GTintronicDe novo--Satterstrom2020 E
POLRMT     SP0076924chr19:
629545-629545
GAexonicDe novononsynonymous SNVNM_005035c.C817Tp.R273W12.829.408E-6Fu2022 E
POLRMT     2-1154-003chr19:
630473-630473
CTintronicDe novo--Yuen2016 G
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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