Variant Results

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Results for "ZC3H12B"

Variant Events: 5

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
ZC3H12B	2-1434-003	chrX: 64723499-64723504	TTTATT	TTT	UTR3		De novo					-	-	Yuen2017 G
ZC3H12B	SP0008060	chrX: 64718947-64718947	G	A	exonic			nonsynonymous SNV	NM_001010888	c.G817A	p.G273S	32.0	-	Zhou2022 GE
ZC3H12B	mAGRE5503	chrX: 64719774-64719774	C	T	exonic		De novo	nonsynonymous SNV	NM_001010888	c.C995T	p.P332L	27.2	-	Cirnigliaro2023 G
ZC3H12B	2-1353-003	chrX: 64719083-64719083	G	A	exonic		Inherited	nonsynonymous SNV	NM_001010888	c.G953A	p.R318Q	31.0	-	Jiang2013 G
ZC3H12B	11964.p1	chrX: 64708914-64708914	G	A	exonic		De novo	nonsynonymous SNV	NM_001010888	c.G233A	p.R78H	27.9	2.308E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Satterstrom2020 E Trost2022 G Wilfert2021 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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