Variant Results

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Results for "LZTS2"

Variant Events: 10

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
LZTS2	3-0736-000	chr10: 102757653-102757653	C	T	intronic		De novo					-	-	Trost2022 G
LZTS2	PN400157	chr10: 102765299-102765299	C	T	exonic		Unknown	nonsynonymous SNV	NM_032429	c.C1153T	p.R385W	25.0	1.0E-4	Leblond2019 E
LZTS2	PN400125	chr10: 102765299-102765299	C	T	exonic		Unknown	nonsynonymous SNV	NM_032429	c.C1153T	p.R385W	25.0	1.0E-4	Leblond2019 E
LZTS2	AU3858302	chr10: 102758966-102758966	G	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
LZTS2	7-0249-003	chr10: 102760138-102760138	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
LZTS2	PN400209	chr10: 102765299-102765299	C	T	exonic		Unknown	nonsynonymous SNV	NM_032429	c.C1153T	p.R385W	25.0	1.0E-4	Leblond2019 E
LZTS2	SP0117040	chr10: 102766792-102766792	G	A	exonic		De novo	nonsynonymous SNV	NM_032429	c.G1877A	p.R626Q	22.2	-	Fu2022 E Trost2022 G Trost2022 G Zhou2022 GE
LZTS2	PN400102	chr10: 102765299-102765299	C	T	exonic		Unknown	nonsynonymous SNV	NM_032429	c.C1153T	p.R385W	25.0	1.0E-4	Leblond2019 E
LZTS2	PN400103	chr10: 102765299-102765299	C	T	exonic		Unknown	nonsynonymous SNV	NM_032429	c.C1153T	p.R385W	25.0	1.0E-4	Leblond2019 E
LZTS2	PN400407	chr10: 102765299-102765299	C	T	exonic		Unknown	nonsynonymous SNV	NM_032429	c.C1153T	p.R385W	25.0	1.0E-4	Leblond2019 E

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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