Variant Results

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Results for "SEC13"

Variant Events: 5

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
SEC13	PN400512	chr3: 10360856-10360856	C	T	exonic		Unknown	synonymous SNV	NM_001136026	c.G108A	p.R36R	17.34	2.0E-4	Leblond2019 E
SEC13	111297	chr3: 10354325-10354325	A	G	exonic			nonsynonymous SNV	NM_001136232 NM_001278946 NM_183352 NM_001136026 NM_030673	c.T212C c.T254C c.T254C c.T392C c.T263C	p.I71T p.I85T p.I85T p.I131T p.I88T	25.2	-	Woodbury-Smith2022 E
SEC13	Marques2022:218	chr3: 10357089-10357089	C	T	exonic			nonsynonymous SNV	NM_001136232 NM_001278946 NM_183352 NM_001136026 NM_030673	c.G38A c.G80A c.G80A c.G218A c.G89A	p.R13H p.R27H p.R27H p.R73H p.R30H	35.0	9.141E-5	Marques2022 ET
SEC13	Marques2022:217	chr3: 10354325-10354325	A	G	exonic			nonsynonymous SNV	NM_001136232 NM_001278946 NM_183352 NM_001136026 NM_030673	c.T212C c.T254C c.T254C c.T392C c.T263C	p.I71T p.I85T p.I85T p.I131T p.I88T	25.2	-	Marques2022 ET
SEC13	AU2975301	chr3: 10348410-10348410	A	G	intronic		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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