Variant Results

or

Results for "PRRC2C"

Variant Events: 12

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

PRRC2C

A7

chr1:
171506990-171506990

G

A

intronic

De novo

-

Wu2018 G

PRRC2C

1-0486-003

chr1:
171588546-171588551

ATTTTT

ATTTTTT

intergenic

De novo

-

Yuen2017 G

PRRC2C

74-0265

chr1:
171567575-171567575

G

A

intergenic

De novo

-

Michaelson2012 G

PRRC2C

1-0459-003

chr1:
171510053-171510053

A

G

exonic

De novo

nonsynonymous SNV

NM_015172

c.A3442G

p.I1148V

4.343

-

Yuen2015 G
Yuen2017 G

PRRC2C

1-0346-004

chr1:
171560763-171560763

G

A

exonic

De novo

nonsynonymous SNV

NM_015172

c.G8231A

p.R2744Q

14.38

-

Yuen2015 G
Yuen2017 G

PRRC2C

AU4028302

chr1:
171554681-171554682

TA

T

intronic

De novo

-

Yuen2017 G

PRRC2C

SP0051777

chr1:
171501836-171501836

A

G

exonic

De novo

nonsynonymous SNV

NM_015172

c.A1603G

p.R535G

5.571

-

Fu2022 E

PRRC2C

11003.p1

chr1:
171548976-171548976

G

A

exonic

De novo

nonsynonymous SNV

NM_015172

c.G7276A

p.V2426I

15.49

8.835E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E

PRRC2C

AU054304

chr1:
171590564-171590564

A

G

intergenic

De novo

-

Yuen2017 G

PRRC2C

11003_p1

chr1:
171548976-171548976

G

A

exonic

De novo

nonsynonymous SNV

NM_015172

c.G7276A

p.V2426I

15.49

8.835E-6

Fu2022 E

PRRC2C

AU4263304

chr1:
171562394-171562425

AATATATATATATATATACATATATATATATA

AATATATATATATATATATATACATATATATATATA

UTR3

De novo

-

Yuen2017 G

PRRC2C

AU4423303

chr1:
171509586-171509586

G

A

exonic

De novo

nonsynonymous SNV

NM_015172

c.G2975A

p.R992H

14.02

1.759E-5

Yuen2017 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
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