Variant Results

or

or

Results for "PRG4"

Variant Events: 5

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
PRG4	SP0006667	chr1: 186281999-186281999	G	A	exonic		De novo	nonsynonymous SNV	NM_001127710 NM_001127709 NM_001127708 NM_001303232 NM_005807	c.G3688A c.G3811A c.G3967A c.G3961A c.G4090A	p.G1230S p.G1271S p.G1323S p.G1321S p.G1364S	19.89	4.946E-5	Feliciano2019 E
PRG4	SSC00317	chr1: 186281435-186281435	A	G	exonic		De novo	nonsynonymous SNV	NM_001127710 NM_001127709 NM_001127708 NM_001303232 NM_005807	c.A3520G c.A3643G c.A3799G c.A3793G c.A3922G	p.I1174V p.I1215V p.I1267V p.I1265V p.I1308V	4.741	-	Lim2017 E
PRG4	1360JS0011	chr1: 186276795-186276795	C	T	exonic		De novo	synonymous SNV	NM_001127710 NM_001127709 NM_001127708 NM_001303232 NM_005807	c.C1542T c.C1665T c.C1821T c.C1815T c.C1944T	p.L514L p.L555L p.L607L p.L605L p.L648L	-	1.695E-5	DeRubeis2014 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
PRG4	04C37818	chr1: 186275867-186275867	C	A	exonic		De novo	nonsynonymous SNV	NM_001127710 NM_001127709 NM_001127708 NM_001303232 NM_005807	c.C614A c.C737A c.C893A c.C887A c.C1016A	p.T205N p.T246N p.T298N p.T296N p.T339N	13.14	-	Satterstrom2020 E
PRG4	11026.p1	chr1: 186281435-186281435	A	G	exonic		De novo	nonsynonymous SNV	NM_001127710 NM_001127709 NM_001127708 NM_001303232 NM_005807	c.A3520G c.A3643G c.A3799G c.A3793G c.A3922G	p.I1174V p.I1215V p.I1267V p.I1265V p.I1308V	4.741	-	Iossifov2014 E Kosmicki2017 E Krupp2017 E 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