Variant Results

or

or

Results for "PRR14"

Variant Events: 10

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
PRR14	2-1798-003	chr16: 30667469-30667469	G	A	exonic		De novo	nonsynonymous SNV	NM_024031	c.G1595A	p.R532Q	16.48	8.703E-6	Trost2022 G Zhou2022 GE
PRR14	mAGRE5420	chr16: 30664041-30664041	G	C	splicing		Paternal	splicing				14.49	4.123E-5	Cirnigliaro2023 G
PRR14	mAGRE5418	chr16: 30664041-30664041	G	C	splicing		Paternal	splicing				14.49	4.123E-5	Cirnigliaro2023 G
PRR14	12676.p1	chr16: 30666020-30666020	C	A	exonic		De novo	synonymous SNV	NM_024031	c.C729A	p.P243P	-	-	Satterstrom2020 E Zhou2022 GE
PRR14	SP0117308	chr16: 30667112-30667112	T	TA	intronic		De novo					-	-	Fu2022 E
PRR14	Chen2017:33	chr16: 30666220-30666220	G	A	exonic		De novo	nonsynonymous SNV	NM_024031	c.G929A	p.R310H	13.74	1.678E-5	Chen2017 E
PRR14	200675435_1082034256	chr16: 30666220-30666220	G	A	exonic		De novo	nonsynonymous SNV	NM_024031	c.G929A	p.R310H	13.74	1.678E-5	Fu2022 E
PRR14	SP0045406	chr16: 30666795-30666795	T	C	intronic		De novo					-	-	Fu2022 E Trost2022 G
PRR14	ASC_CA_65_A	chr16: 30666104-30666104	A	C	exonic		De novo	synonymous SNV	NM_024031	c.A813C	p.P271P	-	-	Satterstrom2020 E Trost2022 G Zhou2022 GE
PRR14	SSC06174	chr16: 30666020-30666020	C	A	exonic		De novo	synonymous SNV	NM_024031	c.C729A	p.P243P	-	-	Lim2017 E 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