Variant Results

or

or

Results for "PRRC2B"

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

PRRC2B

5-0015-003

chr9:
134341286-134341287

AT

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PRRC2B

7-0058-003

chr9:
134315054-134315062

GTGCTCAAA

G

intronic

De novo

-

-

Yuen2017 G

PRRC2B

1-0075-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

PRRC2B

7-0251-003

chr9:
134370317-134370317

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PRRC2B

AU030104

chr9:
134357550-134357550

T

C

intronic

De novo

-

-

Yuen2017 G

PRRC2B

7-0094-004

chr9:
134312375-134312376

AC

A

intronic

De novo

-

-

Trost2022 G

PRRC2B

SSC06387

chr9:
134351746-134351746

G

A

exonic

De novo

synonymous SNV

NM_013318

c.G4230A

p.L1410L

3.924

-

Fu2022 E
Lim2017 E
Trost2022 G

PRRC2B

MT_40.3

chr9:
134320450-134320451

TA

T

intronic

De novo

-

-

Trost2022 G

PRRC2B

12638.p1

chr9:
134351746-134351746

G

A

exonic

De novo

synonymous SNV

NM_013318

c.G4230A

p.L1410L

3.924

-

Satterstrom2020 E
Zhou2022 GE

PRRC2B

1-0171-004

chr9:
134346335-134346335

C

T

exonic

De novo

nonsynonymous SNV

NM_013318

c.C2072T

p.P691L

20.3

Yuen2015 G
Zhou2022 GE

PRRC2B

2-0198-003

chr9:
134363603-134363603

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PRRC2B

AU030103

chr9:
134357550-134357550

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PRRC2B

SP0044120

chr9:
134360254-134360254

A

C

intronic

De novo

-

-

Trost2022 G

PRRC2B

SP0084320

chr9:
134351522-134351522

G

T

exonic

De novo

nonsynonymous SNV

NM_013318

c.G4006T

p.A1336S

0.008

-

Trost2022 G
Zhou2022 GE

PRRC2B

SP0163546

chr9:
134340218-134340218

G

A

exonic

De novo

synonymous SNV

NM_013318

c.G1473A

p.R491R

-

-

Trost2022 G

PRRC2B

MSSNG00159-003

chr9:
134356393-134356393

T

TA

intronic

De novo

-

-

Trost2022 G

PRRC2B

Wang2023:199

chr9:
134305631-134305631

G

A

exonic

De novo

nonsynonymous SNV

NM_013318

c.G100A

p.A34T

9.18

-

Wang2023 E

PRRC2B

REACH000597

chr9:
134325612-134325612

A

G

intronic

De novo

-

-

Trost2022 G

PRRC2B

MSSNG00421-008

chr9:
134339461-134339461

T

C

intronic

De novo

-

-

Trost2022 G

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
	More