Variant Results

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Results for "SF1"

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
SF1	12673.p1	chr11: 64532910-64532910	T	C	exonic		De novo	nonsynonymous SNV	NM_201997 NM_201995	c.A1667G c.A1868G	p.Q556R p.Q623R	13.82	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Wilfert2021 G
SF1	Lim2017:35937	chr11: 64536710-64536710	C	T	exonic		Mosaic	nonsynonymous SNV	NM_001178030 NM_001178031 NM_004630 NM_201995 NM_201997 NM_201998	c.G1139A c.G686A c.G764A c.G764A c.G764A c.G764A	p.R380Q p.R229Q p.R255Q p.R255Q p.R255Q p.R255Q	36.0	-	Lim2017 E
SF1	SSC05396	chr11: 64532910-64532910	T	C	exonic		De novo	nonsynonymous SNV	NM_201997 NM_201995	c.A1667G c.A1868G	p.Q556R p.Q623R	13.82	-	Lim2017 E
SF1	11386.p1	chr11: 64534557-64534557	G	C	intronic		De novo					-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
SF1	3-0448-000	chr11: 64543731-64543731	C	T	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
SF1	13071.p1	chr11: 64536710-64536710	C	T	exonic		Mosaic, De novo	nonsynonymous SNV	NM_001178030 NM_001178031 NM_004630 NM_201995 NM_201997 NM_201998	c.G1139A c.G686A c.G764A c.G764A c.G764A c.G764A	p.R380Q p.R229Q p.R255Q p.R255Q p.R255Q p.R255Q	36.0	-	Ji2016 E Krupp2017 E
SF1	2-1722-003	chr11: 64546078-64546078	G	T	UTR5		De novo					-	-	Yuen2017 G
SF1	2-1722-003	chr11: 64550319-64550319	G	A	intergenic		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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