Variant Results

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Results for "IWS1"

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
IWS1	SP0081788	chr2: 128262984-128262984	C	G	exonic		De novo	nonsynonymous SNV	NM_017969	c.G495C	p.Q165H	7.893	-	Fu2022 E Trost2022 G Zhou2022 GE
IWS1	1-0139-005	chr2: 128285088-128285088	G	A	intergenic		De novo					-	-	Yuen2017 G
IWS1	2-1252-003	chr2: 128277967-128277967	T	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
IWS1	iHART2912	chr2: 128263262-128263264	CAT	C	exonic		Maternal	frameshift deletion	NM_017969	c.215_216del	p.D72fs	-	-	Ruzzo2019 G
IWS1	583-04-101736	chr2: 128262427-128262427	G	GA	exonic		De novo	frameshift insertion	NM_017969	c.1051dupT	p.S351fs	-	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
IWS1	mAGRE2912	chr2: 128263262-128263264	CAT	C	exonic		Maternal	frameshift deletion	NM_017969	c.215_216del	p.D72fs	-	-	Cirnigliaro2023 G
IWS1	Kim2020:B5	chr2: 128250906-128250906	C	G	exonic		De novo	nonsynonymous SNV	NM_017969	c.G1880C	p.S627T	16.44	-	Kim2020 E Kim2020 E
IWS1	11530-1	chr2: 128262587-128262587	G	A	exonic		De novo	stopgain	NM_017969	c.C892T	p.R298X	33.0	-	Fu2022 E

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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