Variant Results

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Results for "LOXL1"

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
LOXL1	SP0048072	chr15: 74220069-74220069	C	CCCGCCGCCCGAGGCGTACGGG	exonic		De novo	nonframeshift insertion	NM_005576	c.945_946insCCGCCGCCCGAGGCGTACGGG	p.N315delinsNPPPEAYG	-	-	Fu2022 E Zhou2022 GE
LOXL1	14240.p1	chr15: 74238793-74238793	T	A	exonic		De novo	nonsynonymous SNV	NM_005576	c.T1247A	p.V416E	13.92	-	Ji2016 E Krumm2015 E Zhou2022 GE
LOXL1	2-1455-003	chr15: 74242741-74242741	G	A	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
LOXL1	SSC11006	chr15: 74238793-74238793	T	A	exonic		De novo	nonsynonymous SNV	NM_005576	c.T1247A	p.V416E	13.92	-	Lim2017 E
LOXL1	AU047703	chr15: 74260675-74260679	ACCCC	ACCC	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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