Variant Results

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Results for "LAX1"

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
LAX1	1-0534-003	chr1: 203733310-203733310	G	T	upstream		De novo					-	-	Yuen2017 G
LAX1	REACH000609	chr1: 203739643-203739643	A	G	intronic		De novo					-	-	Trost2022 G
LAX1	2-0088-003	chr1: 203754162-203754162	A	AAC	intergenic		De novo					-	-	Yuen2017 G
LAX1	SP0047209	chr1: 203743637-203743637	C	T	exonic		De novo	nonsynonymous SNV	NM_001136190 NM_001282878 NM_017773	c.C977T c.C797T c.C1025T	p.S326L p.S266L p.S342L	0.912	8.237E-6	Fu2022 E Trost2022 G Zhou2022 GE
LAX1	SP0091173	chr1: 203740538-203740554	TTTGCCACAAACCAGAC	T	exonic		De novo	frameshift deletion	NM_001136190 NM_001282878 NM_017773	c.196_211del c.16_31del c.244_259del	p.L66fs p.L6fs p.L82fs	-	-	Fu2022 E Trost2022 G
LAX1	REACH000609	chr1: 203739647-203739647	A	G	intronic		De novo					-	-	Trost2022 G
LAX1	2-0011-003	chr1: 203743182-203743182	G	A	exonic		De novo	synonymous SNV	NM_001136190 NM_001282878 NM_017773	c.G522A c.G342A c.G570A	p.S174S p.S114S p.S190S	-	1.0E-4	Yuen2015 G Zhou2022 GE

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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