Variant Results

or

or

Results for "PPCS"

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
PPCS	AU1987304	chr1: 42927578-42927578	G	A	intronic		De novo					-	-	Yuen2017 G
PPCS	G01-GEA-328_HI	chr1: 42922220-42922220	C	T	UTR5		De novo					-	2.0E-4	Satterstrom2020 E
PPCS	2-1529-003	chr1: 42956085-42956085	T	A	intergenic		De novo					-	-	Yuen2017 G
PPCS	2-0109-003	chr1: 42996732-42996732	A	G	intergenic		De novo					-	-	Yuen2017 G
PPCS	SP0005315	chr1: 42948425-42948425	A	C	intergenic		De novo					-	-	Fu2022 E
PPCS	SP0027448	chr1: 42922450-42922451	GC	G	exonic		De novo	frameshift deletion	NM_001287511 NM_024664	c.215delC c.215delC	p.A72fs p.A72fs	-	-	Feliciano2019 E
PPCS	P1466	chr1: 42925473-42925473	C	A	exonic		De novo	nonsynonymous SNV	NM_001287510 NM_001077447 NM_001287506 NM_001287507 NM_001287508 NM_001287509 NM_024664	c.C293A c.C293A c.C293A c.C194A c.C293A c.C293A c.C812A	p.T98N p.T98N p.T98N p.T65N p.T98N p.T98N p.T271N	22.1	-	Hashimoto2016 E
PPCS	SP0055732	chr1: 42922836-42922836	A	C	UTR5		De novo					-	-	Fu2022 E
PPCS	10C100480	chr1: 42922346-42922346	T	G	exonic		De novo	nonsynonymous SNV	NM_001287511 NM_024664	c.T110G c.T110G	p.V37G p.V37G	23.3	9.0E-4	Satterstrom2020 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
	More