Variant Results

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Results for "MRPS2"

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
MRPS2	200675257@1082034415	chr9: 138393844-138393845	CG	C	intronic		De novo					-	-	Satterstrom2020 E Trost2022 G
MRPS2	mAGRE2268	chr9: 138392947-138392949	CCG	C	exonic		Paternal	frameshift deletion	NM_016034	c.148_149del	p.R50fs	-	1.5E-5	Cirnigliaro2023 G
MRPS2	iHART2268	chr9: 138392947-138392949	CCG	C	exonic		Paternal	frameshift deletion	NM_016034	c.148_149del	p.R50fs	-	1.5E-5	Ruzzo2019 G
MRPS2	200675547_1082034495	chr9: 138392846-138392846	G	T	exonic		De novo	nonsynonymous SNV	NM_016034	c.G46T	p.A16S	14.57	-	Fu2022 E
MRPS2	Chen2017:79	chr9: 138392846-138392846	G	T	exonic		De novo	nonsynonymous SNV	NM_016034	c.G46T	p.A16S	14.57	-	Chen2017 E

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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