Variant Results

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Results for "STYX"

Variant Events: 7

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
STYX	3-0169-000	chr14: 53196978-53196978	T	G	UTR5		De novo					-	-	Trost2022 G
STYX	AU3790301	chr14: 53205892-53205892	A	G	intronic		De novo					-	-	Trost2022 G
STYX	7-0151-003	chr14: 53227921-53227921	C	T	intronic		De novo					-	-	Yuen2017 G
STYX	AU2777302	chr14: 53211327-53211327	A	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
STYX	mAGRE3127	chr14: 53217446-53217446	C	T	exonic		Paternal	stopgain	NM_145251 NM_001130701	c.C190T c.C190T	p.R64X p.R64X	26.5	-	Cirnigliaro2023 G
STYX	iHART3127	chr14: 53217446-53217446	C	T	exonic		Paternal	stopgain	NM_145251 NM_001130701	c.C190T c.C190T	p.R64X p.R64X	26.5	-	Ruzzo2019 G
STYX	1-0388-003	chr14: 53233251-53233251	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 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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