Variant Results

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Results for "SNF8"

Variant Events: 7

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
SNF8	mAGRE1153	chr17: 47009032-47009032	C	T	exonic		Paternal	stopgain	NM_001317193 NM_001317192 NM_007241 NM_001317194	c.G561A c.G609A c.G612A c.G300A	p.W187X p.W203X p.W204X p.W100X	35.0	-	Cirnigliaro2023 G
SNF8	iHART1153	chr17: 47009032-47009032	C	T	exonic		Paternal	stopgain	NM_001317193 NM_001317192 NM_007241 NM_001317194	c.G561A c.G609A c.G612A c.G300A	p.W187X p.W203X p.W204X p.W100X	35.0	-	Ruzzo2019 G
SNF8	Kim2020:B25	chr17: 47014490-47014490	C	T	intronic		De novo					-	-	Kim2020 E
SNF8	SP0123274	chr17: 47010721-47010721	A	C	intronic		De novo					-	-	Fu2022 E Trost2022 G
SNF8	SP0057160	chr17: 47018226-47018226	T	G	intronic		De novo					-	-	Fu2022 E
SNF8	SP0053576	chr17: 47010609-47010609	A	C	exonic		De novo	synonymous SNV	NM_001317193 NM_001317192 NM_007241 NM_001317194	c.T471G c.T522G c.T522G c.T210G	p.A157A p.A174A p.A174A p.A70A	-	-	Fu2022 E
SNF8	SP0081029	chr17: 47022059-47022059	T	C	exonic			nonsynonymous SNV	NM_001317192 NM_001317193 NM_007241	c.A38G c.A38G c.A38G	p.K13R p.K13R p.K13R	18.0	-	Zhou2022 GE

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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