Variant Results

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Results for "MED20"

Variant Events: 7

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
MED20	12505.p1	chr6: 41877253-41877253	G	A	exonic		De novo	synonymous SNV	NM_001305457 NM_004275	c.C177T c.C177T	p.T59T p.T59T	-	5.789E-5	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
MED20	PN400565	chr6: 41884544-41884544	C	T	exonic		De novo	nonsynonymous SNV	NM_001305457 NM_004275	c.G148A c.G148A	p.A50T p.A50T	8.89	7.0E-4	Leblond2019 E
MED20	SP0029269	chr6: 41877252-41877252	C	T	exonic		De novo	nonsynonymous SNV	NM_001305457 NM_004275	c.G178A c.G178A	p.G60R p.G60R	20.9	-	Fu2022 E Trost2022 G Zhou2022 GE
MED20	SP0089660	chr6: 41884631-41884631	C	T	exonic		De novo	nonsynonymous SNV	NM_001305457 NM_004275	c.G61A c.G61A	p.V21I p.V21I	13.75	2.471E-5	Fu2022 E Trost2022 G Zhou2022 GE
MED20	SSC05532	chr6: 41877253-41877253	G	A	exonic		De novo	synonymous SNV	NM_001305457 NM_004275	c.C177T c.C177T	p.T59T p.T59T	-	5.789E-5	Fu2022 E Trost2022 G
MED20	SP0083589	chr6: 41884699-41884699	C	T	intronic		De novo					-	-	Fu2022 E Trost2022 G
MED20	SP0016344	chr6: 41884764-41884764	A	C	intronic		De novo					-	-	Fu2022 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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