Variant Results

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Results for "METTL11B"

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
METTL11B	1-0203-004	chr1: 170152720-170152720	C	T	intergenic		De novo					-	-	Yuen2017 G
METTL11B	2-1627-003	chr1: 170216798-170216799	AC	A	intergenic		De novo					-	-	Yuen2017 G
METTL11B	SP0098160	chr1: 170115265-170115265	C	A	exonic		De novo	nonsynonymous SNV	NM_001136107	c.C17A	p.A6D	19.87	-	Fu2022 E Zhou2022 GE
METTL11B	13312.p1	chr1: 170136849-170136849	A	G	exonic		De novo	nonsynonymous SNV	NM_001136107	c.A803G	p.Q268R	13.11	-	Ji2016 E Krumm2015 E Satterstrom2020 E Zhou2022 GE
METTL11B	A28	chr1: 170119373-170119373	G	T	intronic		De novo					-	-	Wu2018 G
METTL11B	SSC07571	chr1: 170136849-170136849	A	G	exonic		De novo	nonsynonymous SNV	NM_001136107	c.A803G	p.Q268R	13.11	-	Fu2022 E Lim2017 E Trost2022 G
METTL11B	1-0417-003	chr1: 170141442-170141442	A	G	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
METTL11B	2-1341-004	chr1: 170145561-170145561	G	A	intergenic		De novo					-	-	Yuen2017 G
METTL11B	13613.p1	chr1: 170129756-170129756	G	C	exonic		Mosaic Mat.	nonsynonymous SNV	NM_001136107	c.G252C	p.E84D	5.55	-	Dou2017 E
METTL11B	2-1277-004	chr1: 170188077-170188077	C	CAGTGA	intergenic		De novo					-	-	Yuen2017 G

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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