Variant Results

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Results for "PCYOX1"

Variant Events: 6

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
PCYOX1	1-0383-003	chr2: 70497127-70497145	CTCTTTCTTTCTTTCTTTC	CTCTTTCTTTCTTTC	intronic		De novo					-	-	Yuen2017 G
PCYOX1	SP0008328	chr2: 70488419-70488419	A	C	exonic		De novo	nonsynonymous SNV	NM_016297	c.A395C	p.N132T	12.14	-	Fu2022 E Trost2022 G Zhou2022 GE
PCYOX1	3-0740-000A	chr2: 70503287-70503287	T	C	intronic		De novo					-	-	Trost2022 G
PCYOX1	AU4089302	chr2: 70504234-70504234	C	T	exonic		Maternal	stopgain	NM_016297	c.C1228T	p.Q410X	22.0	8.264E-6	Cirnigliaro2023 G
PCYOX1	AU4089301	chr2: 70504234-70504234	C	T	exonic		Maternal	stopgain	NM_016297	c.C1228T	p.Q410X	22.0	8.264E-6	Cirnigliaro2023 G
PCYOX1	NDAR_INVPC670BF4_wes1	chr2: 70502099-70502099	G	A	exonic		De novo	nonsynonymous SNV	NM_016297	c.G503A	p.R168H	19.46	1.648E-5	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE

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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