Variant Results

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Results for "ISM2"

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
ISM2	3-0305-000	chr14: 77947872-77947889	TGTAGTAAAGATTATACC	T	intronic		De novo					-	-	Trost2022 G
ISM2	SP0027566	chr14: 77942444-77942444	A	G	exonic		De novo	nonsynonymous SNV	NM_199296	c.T1210C	p.C404R	16.04	-	Fu2022 E Trost2022 G Zhou2022 GE
ISM2	AU3368302	chr14: 77966509-77966509	C	A	intergenic		De novo					-	-	Yuen2017 G
ISM2	ASC_CA_119_A	chr14: 77950714-77950714	C	T	exonic		De novo	synonymous SNV	NM_182509 NM_199296	c.G579A c.G579A	p.L193L p.L193L	-	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
ISM2	mAGRE2788	chr14: 77941964-77941964	G	A	exonic		Maternal	stopgain	NM_199296	c.C1690T	p.Q564X	27.4	-	Cirnigliaro2023 G
ISM2	iHART2788	chr14: 77941964-77941964	G	A	exonic		Maternal	stopgain	NM_199296	c.C1690T	p.Q564X	27.4	-	Ruzzo2019 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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