Variant Results

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Results for "EPX"

Variant Events: 8

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
EPX	05C48774	chr17: 56271462-56271462	G	A	intronic		De novo					-	-	Satterstrom2020 E Trost2022 G
EPX	SP0139934	chr17: 56281624-56281624	G	A	exonic		De novo	nonsynonymous SNV	NM_000502	c.G1988A	p.R663H	16.53	1.0E-4	Fu2022 E Trost2022 G Zhou2022 GE
EPX	60-2036	chr17: 56281589-56281589	G	C	exonic		Inherited	nonsynonymous SNV	NM_000502	c.G1953C	p.W651C	19.01	8.238E-5	Patowary2019 E
EPX	SP0043150	chr17: 56272539-56272539	C	T	intronic		De novo					-	-	Fu2022 E Trost2022 G Zhou2022 GE
EPX	SP0051285	chr17: 56281558-56281558	C	T	intronic		De novo					-	-	Fu2022 E Trost2022 G
EPX	14015.p1	chr17: 56282309-56282309	G	A	UTR3		De novo					-	-	Turner2016 G
EPX	4-0062-003	chr17: 56278502-56278503	CT	TC	intronic		De novo					-	-	Trost2022 G
EPX	4-0062-003	chr17: 56278508-56278508	C	G	intronic		De novo					-	-	Trost2022 G

Source Variant Information

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Paper Information

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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.
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