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Results for "PRRC2C"

Variant Events: 10

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
PRRC2C     11003.p1chr1:
171548976-171548976
GAexonicDe novononsynonymous SNVNM_015172c.G7276Ap.V2426I15.498.835E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
PRRC2C     A7chr1:
171506990-171506990
GAintronicDe novo--Wu2018 G
PRRC2C     1-0486-003chr1:
171588546-171588551
ATTTTTATTTTTTintergenicDe novo--Yuen2017 G
PRRC2C     AU054304chr1:
171590564-171590564
AGintergenicDe novo--Yuen2017 G
PRRC2C     74-0265chr1:
171567575-171567575
GAintergenicDe novo--Michaelson2012 G
PRRC2C     1-0459-003chr1:
171510053-171510053
AGexonicDe novononsynonymous SNVNM_015172c.A3442Gp.I1148V4.343-Yuen2015 G
Yuen2017 G
PRRC2C     1-0346-004chr1:
171560763-171560763
GAexonicDe novononsynonymous SNVNM_015172c.G8231Ap.R2744Q14.38-Yuen2015 G
Yuen2017 G
PRRC2C     AU4028302chr1:
171554681-171554682
TATintronicDe novo--Yuen2017 G
PRRC2C     AU4263304chr1:
171562394-171562425
AATATATATATATATATACATATATATATATAAATATATATATATATATATATACATATATATATATAUTR3De novo--Yuen2017 G
PRRC2C     AU4423303chr1:
171509586-171509586
GAexonicDe novononsynonymous SNVNM_015172c.G2975Ap.R992H14.021.759E-5Yuen2017 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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