Variant Results

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Results for "MSH5"

Variant Events: 8

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
MSH5	SP0054615	chr6: 31711954-31711954	G	T	exonic		De novo	synonymous SNV	NM_025259	c.G576T	p.L192L	-	-	Fu2022 E Trost2022 G Zhou2022 GE
MSH5	SP0134976	chr6: 31712327-31712327	C	G	exonic		De novo	nonsynonymous SNV	NM_002441 NM_025259 NM_172165 NM_172166	c.C652G c.C703G c.C652G c.C652G	p.H218D p.H235D p.H218D p.H218D	4.048	-	Fu2022 E Trost2022 G Zhou2022 GE
MSH5	iHART1915	chr6: 31710948-31710948	G	T	splicing		Paternal	splicing				21.3	8.591E-6	Ruzzo2019 G
MSH5	09C82619	chr6: 31726346-31726346	G	A	exonic		De novo	nonsynonymous SNV	NM_002441 NM_025259 NM_172165 NM_172166	c.G1165A c.G1216A c.G1165A c.G1165A	p.A389T p.A406T p.A389T p.A389T	15.15	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
MSH5	mAGRE4589	chr6: 31728595-31728596	CT	C	exonic		Maternal	frameshift deletion	NM_002441 NM_025259 NM_172165 NM_172166	c.1942delT c.1993delT c.1942delT c.1942delT	p.F648fs p.F665fs p.F648fs p.F648fs	-	8.976E-6	Cirnigliaro2023 G
MSH5	mAGRE1915	chr6: 31710948-31710948	G	T	splicing		Paternal	splicing				21.3	8.591E-6	Cirnigliaro2023 G
MSH5	12036-1	chr6: 31727229-31727229	C	T	exonic		De novo	nonsynonymous SNV	NM_002441 NM_025259 NM_172165 NM_172166	c.C1435T c.C1486T c.C1435T c.C1435T	p.R479C p.R496C p.R479C p.R479C	26.6	8.64E-6	Fu2022 E
MSH5	111299	chr6: 31726545-31726545	A	G	exonic			nonsynonymous SNV	NM_002441 NM_025259 NM_172165 NM_172166	c.A1219G c.A1270G c.A1219G c.A1219G	p.K407E p.K424E p.K407E p.K407E	31.0	-	Woodbury-Smith2022 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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