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Results for "PRRC2B"

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
PRRC2B     SSC06387chr9:
134351746-134351746
GAexonicDe novosynonymous SNVNM_013318c.G4230Ap.L1410L3.924-Lim2017 E
PRRC2B     12638.p1chr9:
134351746-134351746
GAexonicDe novosynonymous SNVNM_013318c.G4230Ap.L1410L3.924-Satterstrom2020 E
PRRC2B     1-0171-004chr9:
134346335-134346335
CTexonicDe novononsynonymous SNVNM_013318c.C2072Tp.P691L20.33.367E-5Yuen2015 G
PRRC2B     5-0015-003chr9:
134341286-134341287
ATAintronicDe novo--Yuen2017 G
PRRC2B     2-0198-003chr9:
134363603-134363603
GAintronicDe novo--Yuen2017 G
PRRC2B     7-0058-003chr9:
134315054-134315062
GTGCTCAAAGintronicDe novo--Yuen2017 G
PRRC2B     AU030103chr9:
134357550-134357550
TCintronicDe novo--Yuen2017 G
PRRC2B     1-0075-003chr9:
134317804-134317808
ACTCTACTCTCTintronicDe novo--Yuen2017 G
PRRC2B     7-0251-003chr9:
134370317-134370317
CTintronicDe novo--Yuen2017 G
PRRC2B     AU030104chr9:
134357550-134357550
TCintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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