Variant Results

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Results for "TUSC5"

Variant Events: 9

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
TUSC5	P6Q4Z_01	chr17: 1196888-1196888	A	T	intronic		De novo					-	-	Trost2022 G
TUSC5	111311	chr17: 1198822-1198822	C	T	exonic			nonsynonymous SNV	NM_172367	c.C425T	p.A142V	31.0	-	Woodbury-Smith2022 E
TUSC5	4-0102-003	chr17: 1185540-1185540	G	A	intronic		De novo					-	-	Trost2022 G
TUSC5	MSSNG00377-003	chr17: 1187757-1187757	G	A	intronic		De novo					-	-	Trost2022 G
TUSC5	3-0436-000	chr17: 1216342-1216342	C	T	intergenic		De novo					-	-	Yuen2017 G
TUSC5	4-0102-003	chr17: 1185527-1185527	T	C	intronic		De novo					-	-	Trost2022 G
TUSC5	7-0171-003	chr17: 1191227-1191227	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
TUSC5	AU0540301	chr17: 1209933-1209933	C	T	intergenic		De novo					-	-	Yuen2017 G
TUSC5	AU4463303	chr17: 1218156-1218156	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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