Variant Results

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Results for "CIZ1"

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
CIZ1	SP0018150	chr9: 130941262-130941262	C	A	exonic		Mosaic	nonsynonymous SNV	NM_001257976 NM_001131016 NM_001257975 NM_012127	c.G921T c.G1224T c.G1314T c.G1224T	p.Q307H p.Q408H p.Q438H p.Q408H	5.819	-	Feliciano2019 E
CIZ1	Cukier2014:7606	chr9: 130941377-130941377	T	C	exonic		Unknown	nonsynonymous SNV	NM_001131018 NM_001257976 NM_001131015 NM_001131016 NM_001131017 NM_001257975 NM_012127	c.A1037G c.A806G c.A1109G c.A1109G c.A1094G c.A1199G c.A1109G	p.E346G p.E269G p.E370G p.E370G p.E365G p.E400G p.E370G	23.2	0.0029	Cukier2014 E
CIZ1	2-1720-003	chr9: 130941583-130941583	C	T	exonic		De novo	synonymous SNV	NM_001131018 NM_001257976 NM_001131015 NM_001131016 NM_001131017 NM_001257975 NM_012127	c.G831A c.G600A c.G903A c.G903A c.G888A c.G993A c.G903A	p.E277E p.E200E p.E301E p.E301E p.E296E p.E331E p.E301E	-	-	Yuen2017 G
CIZ1	1-0453-003	chr9: 130960320-130960320	C	T	intronic		De novo					-	-	Yuen2017 G
CIZ1	AU2089302	chr9: 130941982-130941982	G	A	intronic		De novo					-	-	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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