Variant Results

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Results for "ARMC4"

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
ARMC4	5-0099-003	chr10: 28182463-28182463	G	C	intronic		De novo					-	-	Yuen2017 G
ARMC4	AU4186302	chr10: 28228367-28228367	G	A	intronic		De novo					-	-	Yuen2017 G
ARMC4	12693.p1	chr10: 28233793-28233793	G	T	exonic		Mosaic	synonymous SNV	NM_001290021 NM_001312689 NM_001290020 NM_018076	c.C60A c.C561A c.C1485A c.C1485A	p.G20G p.G187G p.G495G p.G495G	-	-	Dou2017 E
ARMC4	1-0973-003	chr10: 28276894-28276894	T	A	intronic		De novo					-	-	Yuen2017 G
ARMC4	3-0109-000	chr10: 28149756-28149756	T	A	exonic		De novo	nonsynonymous SNV	NM_001290021 NM_001312689 NM_001290020 NM_018076	c.A1394T c.A1895T c.A2819T c.A2819T	p.H465L p.H632L p.H940L p.H940L	3.888	-	Tammimies2015 E
ARMC4	2-1507-003	chr10: 28238623-28238623	A	G	intronic		De novo					-	-	Yuen2017 G
ARMC4	Cukier2014:17342	chr10: 28149640-28149640	C	T	exonic		Unknown	nonsynonymous SNV	NM_001290021 NM_001312689 NM_001290020 NM_018076	c.G1510A c.G2011A c.G2935A c.G2935A	p.V504M p.V671M p.V979M p.V979M	18.63	7.0E-4	Cukier2014 E
ARMC4	2-1434-003	chr10: 28058578-28058578	T	C	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
ARMC4	11346.p1	chr10: 28233146-28233146	C	A	intronic		Mosaic					-	0.0011	Dou2017 E

Source Variant Information

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Paper Information

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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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