Variant Results

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Results for "TM9SF1"

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
TM9SF1	08C74770	chr14: 24661571-24661571	C	T	intronic		De novo					-	5.26E-5	Satterstrom2020 E Trost2022 G
TM9SF1	SP0127084	chr14: 24659768-24659768	A	C	exonic		De novo	synonymous SNV	NM_001014842 NM_001289006 NM_006405	c.T1245G c.T984G c.T1245G	p.L415L p.L328L p.L415L	-	-	Fu2022 E Trost2022 G Zhou2022 GE
TM9SF1	REACH000233	chr14: 24659805-24659805	G	A	exonic		De novo	nonsynonymous SNV	NM_001014842 NM_001289006 NM_006405	c.C1208T c.C947T c.C1208T	p.S403L p.S316L p.S403L	32.0	-	Trost2022 G Zhou2022 GE
TM9SF1	111304	chr14: 24658968-24658968	G	A	exonic			nonsynonymous SNV	NM_001289006 NM_006405	c.C1213T c.C1474T	p.R405W p.R492W	23.3	-	Woodbury-Smith2022 E
TM9SF1	SP0164586	chr14: 24659497-24659497	G	A	UTR3		De novo					-	-	Trost2022 G
TM9SF1	A000313	chr14: 24662351-24662351	A	T	exonic		De novo	nonsynonymous SNV	NM_001014842 NM_001289006 NM_006405	c.T470A c.T209A c.T470A	p.I157K p.I70K p.I157K	21.4	-	Fu2022 E

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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