Variant Results

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Results for "MIDN"

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
MIDN	MSSNG00243-003	chr19: 1259748-1259748	C	G	downstream		De novo					-	-	Trost2022 G
MIDN	12103.p1	chr19: 1257077-1257077	C	G	exonic		De novo	nonsynonymous SNV	NM_177401	c.C1213G	p.R405G	23.5	-	Ji2016 E Krumm2015 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
MIDN	SP0089966	chr19: 1257078-1257078	G	A	exonic		De novo	nonsynonymous SNV	NM_177401	c.G1214A	p.R405H	28.2	-	Fu2022 E Trost2022 G Zhou2022 GE
MIDN	SP0008925	chr19: 1254991-1254991	C	T	exonic		De novo	stopgain	NM_177401	c.C787T	p.R263X	43.0	-	Fu2022 E Trost2022 G Zhou2022 GE
MIDN	AU4154303	chr19: 1257600-1257600	A	G	UTR3		De novo					-	-	Trost2022 G Yuen2017 G
MIDN	SP0094767	chr19: 1254074-1254074	G	C	intronic		De novo					-	-	Fu2022 E Trost2022 G
MIDN	12103_p1	chr19: 1257077-1257077	C	G	exonic		De novo	nonsynonymous SNV	NM_177401	c.C1213G	p.R405G	23.5	-	Fu2022 E
MIDN	SP0089071	chr19: 1254459-1254459	C	T	exonic		De novo	synonymous SNV	NM_177401	c.C678T	p.A226A	-	-	Fu2022 E Trost2022 G Zhou2022 GE

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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