Variant Results

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Results for "METTL2B"

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
METTL2B	2-1397-003	chr7: 128121219-128121219	T	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
METTL2B	SSC02035	chr7: 128116802-128116802	G	A	UTR5		De novo					-	-	Trost2022 G
METTL2B	PN400287	chr7: 128248269-128248269	T	C	intergenic		Inherited					-	-	Leblond2019 E
METTL2B	11584.p1	chr7: 128116802-128116802	G	A	UTR5		De novo					-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
METTL2B	2-1509-003	chr7: 128253225-128253225	G	A	intergenic		De novo					-	-	Yuen2017 G
METTL2B	1-0514-003	chr7: 128233685-128233685	A	G	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
METTL2B	SP0089282	chr7: 128119401-128119401	A	G	exonic		De novo	nonsynonymous SNV	NM_018396	c.A392G	p.D131G	6.387	-	Trost2022 G
METTL2B	7-0166-003	chr7: 128241448-128241466	TTTTTTTTTGTTTTGTTTT	TTTTT	intergenic		De novo					-	-	Yuen2017 G
METTL2B	31.s1	chr7: 128120734-128120734	A	G	exonic		De novo	nonsynonymous SNV	NM_018396	c.A592G	p.I198V	10.79	9.061E-6	An2014 E
METTL2B	14474.p1	chr7: 128116796-128116796	T	A	UTR5		De novo					-	-	Satterstrom2020 E Trost2022 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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