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Results for "PRRC2A"

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
PRRC2A     04HI3433Achr6:
31593603-31593603
AGexonicDe novononsynonymous SNVNM_004638
NM_080686
c.A794G
c.A794G
p.Y265C
p.Y265C
11.16-Satterstrom2020 E
PRRC2A     AU075703chr6:
31592707-31592710
CGGGCGGintronicDe novo--Yuen2017 G
PRRC2A     DEASD_0177_001chr6:
31601140-31601142
GCTGintronicDe novo--Satterstrom2020 E
PRRC2A     1-0388-003chr6:
31598515-31598515
CTexonicDe novononsynonymous SNVNM_004638
NM_080686
c.C2402T
c.C2402T
p.A801V
p.A801V
11.71-Yuen2017 G
PRRC2A     7-0149-003chr6:
31603711-31603711
TAintronicDe novo--Yuen2017 G
PRRC2A     iHART2601chr6:
31605337-31605337
GTexonicMaternalstopgainNM_004638
NM_080686
c.G6448T
c.G6448T
p.E2150X
p.E2150X
49.0-Ruzzo2019 G
PRRC2A     MT_109chr6:
31603009-31603009
AGexonicPaternalnonsynonymous SNVNM_004638
NM_080686
c.A5261G
c.A5261G
p.H1754R
p.H1754R
4.494-Toma2013 E
PRRC2A     iHART1412chr6:
31593603-31593603
AGexonicDe novononsynonymous SNVNM_004638
NM_080686
c.A794G
c.A794G
p.Y265C
p.Y265C
11.16-Ruzzo2019 G
PRRC2A     iHART2599chr6:
31605337-31605337
GTexonicMaternalstopgainNM_004638
NM_080686
c.G6448T
c.G6448T
p.E2150X
p.E2150X
49.0-Ruzzo2019 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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