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Results for "PRRC2A"

Variant Events: 19

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     DEASD_0177_001chr6:
31601140-31601142
GCTGintronicDe novo--Satterstrom2020 E
Trost2022 G
PRRC2A     mAGRE2601chr6:
31605337-31605337
GTexonicMaternalstopgainNM_004638
NM_080686
c.G6448T
c.G6448T
p.E2150X
p.E2150X
49.0-Cirnigliaro2023 G
PRRC2A     mAGRE2599chr6:
31605337-31605337
GTexonicMaternalstopgainNM_004638
NM_080686
c.G6448T
c.G6448T
p.E2150X
p.E2150X
49.0-Cirnigliaro2023 G
PRRC2A     iHART2601chr6:
31605337-31605337
GTexonicMaternalstopgainNM_004638
NM_080686
c.G6448T
c.G6448T
p.E2150X
p.E2150X
49.0-Ruzzo2019 G
PRRC2A     SP0011974chr6:
31600766-31600766
GAexonicDe novononsynonymous SNVNM_004638
NM_080686
c.G4316A
c.G4316A
p.R1439Q
p.R1439Q
12.43.229E-5Fu2022 E
Trost2022 G
Zhou2022 GE
PRRC2A     3-0099-001Achr6:
31605302-31605302
GAexonicDe novononsynonymous SNVNM_004638
NM_080686
c.G6413A
c.G6413A
p.R2138Q
p.R2138Q
5.936-Trost2022 G
PRRC2A     mAGRE5833chr6:
31601181-31601181
GCexonicDe novononsynonymous SNVNM_004638
NM_080686
c.G4345C
c.G4345C
p.G1449R
p.G1449R
13.27-Cirnigliaro2023 G
PRRC2A     iHART1412chr6:
31593603-31593603
AGexonicDe novononsynonymous SNVNM_004638
NM_080686
c.A794G
c.A794G
p.Y265C
p.Y265C
11.16-Ruzzo2019 G
PRRC2A     SP0051920chr6:
31595983-31595983
AGexonicDe novononsynonymous SNVNM_004638
NM_080686
c.A1732G
c.A1732G
p.S578G
p.S578G
14.78-Fu2022 E
Trost2022 G
Zhou2022 GE
PRRC2A     mAGRE1412chr6:
31593603-31593603
AGexonicDe novononsynonymous SNVNM_004638
NM_080686
c.A794G
c.A794G
p.Y265C
p.Y265C
11.16-Cirnigliaro2023 G
PRRC2A     iHART2599chr6:
31605337-31605337
GTexonicMaternalstopgainNM_004638
NM_080686
c.G6448T
c.G6448T
p.E2150X
p.E2150X
49.0-Ruzzo2019 G
PRRC2A     SP0085978chr6:
31593051-31593051
CTexonicDe novosynonymous SNVNM_004638
NM_080686
c.C567T
c.C567T
p.A189A
p.A189A
--Fu2022 E
Trost2022 G
Zhou2022 GE
PRRC2A     04HI3433Achr6:
31593603-31593603
AGexonicDe novononsynonymous SNVNM_004638
NM_080686
c.A794G
c.A794G
p.Y265C
p.Y265C
11.16-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PRRC2A     AU075703 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
PRRC2A     1-0388-003chr6:
31598515-31598515
CTexonicDe novononsynonymous SNVNM_004638
NM_080686
c.C2402T
c.C2402T
p.A801V
p.A801V
11.71-Trost2022 G
Yuen2017 G
Zhou2022 GE
PRRC2A     SP0056725chr6:
31604477-31604477
CTintronicDe novo--Fu2022 E
PRRC2A     7-0149-003chr6:
31603711-31603711
TAintronicDe novo--Yuen2017 G
PRRC2A     SP0011340chr6:
31600180-31600180
CTexonicDe novostopgainNM_004638
NM_080686
c.C3730T
c.C3730T
p.R1244X
p.R1244X
43.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
PRRC2A     MT_109chr6:
31603009-31603009
AGexonicPaternalnonsynonymous SNVNM_004638
NM_080686
c.A5261G
c.A5261G
p.H1754R
p.H1754R
4.494-Toma2013 E
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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