Variant Results

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Results for "MAP3K20"

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
MAP3K20	REACH000145	chr2: 174043465-174043465	A	G	intronic		De novo					-	-	Trost2022 G
MAP3K20	REACH000222	chr2: 174037772-174037772	C	G	intronic		De novo					-	-	Trost2022 G
MAP3K20	3-0484-000	chr2: 174039142-174039142	G	A	intronic		De novo					-	-	Trost2022 G
MAP3K20	14015.p1	chr2: 174015745-174015745	G	A	intronic		De novo					-	-	Turner2016 G
MAP3K20	SSC09696	chr2: 174096941-174096941	G	A	exonic		De novo	nonsynonymous SNV	NM_016653	c.G1054A	p.V352I	15.13	3.312E-5	Fu2022 E Lim2017 E Trost2022 G
MAP3K20	13847.p1	chr2: 174096941-174096941	G	A	exonic		De novo	nonsynonymous SNV	NM_016653	c.G1054A	p.V352I	15.13	3.312E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Zhou2022 GE
MAP3K20	SJD_10	chr2: 174081896-174081896	G	C	exonic		Maternal	nonsynonymous SNV	NM_016653 NM_133646	c.G905C c.G905C	p.S302T p.S302T	15.54	-	Toma2013 E
MAP3K20	AU1698302	chr2: 173962782-173962784	CCT	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
MAP3K20	SP0043825	chr2: 174055826-174055826	G	A	exonic			nonsynonymous SNV	NM_016653 NM_133646	c.G503A c.G503A	p.G168E p.G168E	35.0	-	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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