Variant Results

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Results for "MSH6"

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
MSH6	13890.p1	chr2: 48026852-48026852	G	A	exonic		De novo	nonsynonymous SNV	NM_001281492 NM_001281493 NM_000179 NM_001281494	c.G1340A c.G824A c.G1730A c.G824A	p.R447H p.R275H p.R577H p.R275H	22.4	4.137E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Satterstrom2020 E Wilfert2021 G
MSH6	AU3632301	chr2: 48017453-48017453	T	C	intronic		De novo					-	-	Yuen2017 G
MSH6	12369.p1	chr2: 48030838-48030838	A	T	intronic		Mosaic					-	0.4043	Dou2017 E
MSH6	AU062204	chr2: 48029232-48029232	A	G	intronic		De novo					-	-	Yuen2017 G
MSH6	5-0004-003	chr2: 48012649-48012656	GCCCGGCC	G	intronic		De novo					-	-	Yuen2017 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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