Variant Results

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Results for "PTGES3L"

Variant Events: 4

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
PTGES3L	SSC05570	chr17: 41122338-41122338	T	C	exonic		De novo	nonsynonymous SNV	NM_001142653 NM_001142654 NM_001136042 NM_001261430 NM_025267	c.A430G c.A415G c.A529G c.A529G c.A346G	p.K144E p.K139E p.K177E p.K177E p.K116E	19.22	-	Fu2022 E
PTGES3L	12784.p1	chr17: 41122338-41122338	T	C	exonic		De novo	nonsynonymous SNV	NM_001142653 NM_001142654 NM_001136042 NM_001261430 NM_025267	c.A430G c.A415G c.A529G c.A529G c.A346G	p.K144E p.K139E p.K177E p.K177E p.K116E	19.22	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E
PTGES3L	200675594_1082034690	chr17: 41132152-41132152	G	T	exonic		De novo	synonymous SNV	NM_001136042 NM_001142653 NM_001142654 NM_001261430	c.C48A c.C48A c.C48A c.C48A	p.G16G p.G16G p.G16G p.G16G	-	-	Fu2022 E
PTGES3L	200675594@1082034690	chr17: 41132152-41132152	G	T	exonic		De novo	synonymous SNV	NM_001136042 NM_001142653 NM_001142654 NM_001261430	c.C48A c.C48A c.C48A c.C48A	p.G16G p.G16G p.G16G p.G16G	-	-	Satterstrom2020 E

Source Variant Information

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Paper Information

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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.
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