Variant Results

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Results for "ZYX"

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
ZYX	SP0113060	chr7: 143078304-143078304	G	A	upstream		De novo					-	-	Fu2022 E Trost2022 G Trost2022 G
ZYX	SP0180268	chr7: 143077509-143077509	C	T	upstream		De novo					-	-	Trost2022 G Trost2022 G
ZYX	SP0164586	chr7: 143078807-143078807	C	T	exonic		De novo	nonsynonymous SNV	NM_001010972 NM_003461	c.C143T c.C143T	p.P48L p.P48L	11.13	-	Trost2022 G Trost2022 G
ZYX	AU2410302	chr7: 143087020-143087020	C	T	exonic		Paternal	stopgain	NM_001010972 NM_003461	c.C1564T c.C1564T	p.R522X p.R522X	40.0	2.472E-5	Cirnigliaro2023 G
ZYX	11390.p1	chr7: 143079777-143079777	G	A	exonic		Mosaic	nonsynonymous SNV	NM_001010972 NM_003461	c.G500A c.G500A	p.R167Q p.R167Q	14.07	8.237E-6	Dou2017 E Krupp2017 E
ZYX	SSC09028	chr7: 143079776-143079776	C	G	exonic		De novo	nonsynonymous SNV	NM_001010972 NM_003461	c.C499G c.C499G	p.R167G p.R167G	13.79	-	Fu2022 E Lim2017 E Trost2022 G
ZYX	iHART2909	chr7: 143087020-143087020	C	T	exonic		Paternal	stopgain	NM_001010972 NM_003461	c.C1564T c.C1564T	p.R522X p.R522X	40.0	2.472E-5	Ruzzo2019 G
ZYX	13686.p1	chr7: 143079776-143079776	C	G	exonic		De novo	nonsynonymous SNV	NM_001010972 NM_003461	c.C499G c.C499G	p.R167G p.R167G	13.79	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Zhou2022 GE

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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