Variant Results

or

or

Results for "PRRC2A"

Variant Events: 14

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_001

chr6:
31601140-31601142

GCT

G

intronic

De novo

-

-

Satterstrom2020 E

PRRC2A

iHART2601

chr6:
31605337-31605337

G

T

exonic

Maternal

stopgain

NM_004638
NM_080686

c.G6448T
c.G6448T

p.E2150X
p.E2150X

49.0

-

Ruzzo2019 G

PRRC2A

SP0011974

chr6:
31600766-31600766

G

A

exonic

De novo

nonsynonymous SNV

NM_004638
NM_080686

c.G4316A
c.G4316A

p.R1439Q
p.R1439Q

12.4

Fu2022 E

PRRC2A

iHART1412

chr6:
31593603-31593603

A

G

exonic

De novo

nonsynonymous SNV

NM_004638
NM_080686

c.A794G
c.A794G

p.Y265C
p.Y265C

11.16

-

Ruzzo2019 G

PRRC2A

SP0051920

chr6:
31595983-31595983

A

G

exonic

De novo

nonsynonymous SNV

NM_004638
NM_080686

c.A1732G
c.A1732G

p.S578G
p.S578G

14.78

-

Fu2022 E

PRRC2A

iHART2599

chr6:
31605337-31605337

G

T

exonic

Maternal

stopgain

NM_004638
NM_080686

c.G6448T
c.G6448T

p.E2150X
p.E2150X

49.0

-

Ruzzo2019 G

PRRC2A

SP0085978

chr6:
31593051-31593051

C

T

exonic

De novo

synonymous SNV

NM_004638
NM_080686

c.C567T
c.C567T

p.A189A
p.A189A

-

-

Fu2022 E

PRRC2A

04HI3433A

chr6:
31593603-31593603

A

G

exonic

De novo

nonsynonymous SNV

NM_004638
NM_080686

c.A794G
c.A794G

p.Y265C
p.Y265C

11.16

-

Fu2022 E
Satterstrom2020 E

PRRC2A

AU075703

chr6:
31592707-31592710

CGGG

CGG

intronic

De novo

-

-

Yuen2017 G

PRRC2A

1-0388-003

chr6:
31598515-31598515

C

T

exonic

De novo

nonsynonymous SNV

NM_004638
NM_080686

c.C2402T
c.C2402T

p.A801V
p.A801V

11.71

-

Yuen2017 G

PRRC2A

SP0056725

chr6:
31604477-31604477

C

T

intronic

De novo

-

-

Fu2022 E

PRRC2A

7-0149-003

chr6:
31603711-31603711

T

A

intronic

De novo

-

-

Yuen2017 G

PRRC2A

SP0011340

chr6:
31600180-31600180

C

T

exonic

De novo

stopgain

NM_004638
NM_080686

c.C3730T
c.C3730T

p.R1244X
p.R1244X

43.0

-

Antaki2022 GE
Fu2022 E

PRRC2A

MT_109

chr6:
31603009-31603009

A

G

exonic

Paternal

nonsynonymous SNV

NM_004638
NM_080686

c.A5261G
c.A5261G

p.H1754R
p.H1754R

4.494

-

Toma2013 E

Source Variant Information

, -

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 notes	View
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