Variant Results

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Results for "METTL14"

Variant Events: 9

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
METTL14	150477	chr4: 119609128-119609128	T	A	exonic		De novo	nonsynonymous SNV	NM_020961	c.T117A	p.D39E	15.93	-	Fu2022 E
METTL14	MSSNG00431-003	chr4: 119626938-119626938	G	A	exonic		De novo	nonsynonymous SNV	NM_020961	c.G1028A	p.R343H	27.4	8.326E-6	Trost2022 G Zhou2022 GE
METTL14	2-1625-003	chr4: 119619586-119619586	C	T	intronic		De novo					-	-	Trost2022 G
METTL14	SMHC01971sfs0	chr4: 119631333-119631333	G	A	exonic		De novo	nonsynonymous SNV	NM_020961	c.G1247A	p.G416E	22.3	-	Yuan2023 E
METTL14	1-0556-003	chr4: 119608631-119608631	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
METTL14	mAGRE1536	chr4: 119625089-119625089	G	T	splicing		Paternal	splicing				22.0	-	Cirnigliaro2023 G
METTL14	09C95782	chr4: 119626841-119626841	A	G	exonic		De novo	nonsynonymous SNV	NM_020961	c.A931G	p.I311V	20.9	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Neale2012 E Satterstrom2020 E Trost2022 G Zhou2022 GE
METTL14	iHART1536	chr4: 119625089-119625089	G	T	splicing		Paternal	splicing				22.0	-	Ruzzo2019 G
METTL14	MSSNG00033-004	chr4: 119610470-119610470	A	G	intronic		De novo					-	-	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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