Variant Results

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Results for "MAOB"

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
MAOB	2-1461-003	chrX: 43667952-43667953	CA	CAAA	intronic		De novo					-	-	Yuen2017 G
MAOB	AU3645301	chrX: 43760274-43760279	TTCTCT	TTCTCTCT	intergenic		De novo					-	-	Yuen2017 G
MAOB	Bruno2021:V	chrX: 43640762-43640762	C	T	exonic		Maternal	nonsynonymous SNV	NM_000898	c.G958A	p.E320K	29.9	2.0E-4	Bruno2021 E
MAOB	AU3125301	chrX: 43651264-43651264	G	A	intronic		De novo					-	-	Yuen2017 G
MAOB	Al-Mubarak2017:ASD-58	chrX: 43661503-43661503	C	A	exonic		Unknown	nonsynonymous SNV	NM_000898	c.G392T	p.S131I	12.11	-	Al-Mubarak2017 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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