Variant Results

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Results for "MAP2K1"

Variant Events: 6

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
MAP2K1	1-0627-006	chr15: 66739281-66739281	A	G	intronic		De novo					-	-	Yuen2017 G
MAP2K1	AC01-1000-01	chr15: 66729163-66729163	C	T	exonic		De novo	nonsynonymous SNV	NM_002755	c.C371T	p.P124L	33.0	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
MAP2K1	1-0998-003	chr15: 66728053-66728053	C	T	intronic		De novo					-	-	Yuen2017 G
MAP2K1	C244803	chr15: 66774163-66774163	G	A	exonic		De novo	synonymous SNV	NM_002755	c.G639A	p.G213G	10.84	-	Fu2022 E
MAP2K1	PN400457	chr15: 66774216-66774216	C	T	exonic		Unknown	nonsynonymous SNV	NM_002755	c.C692T	p.S231L	36.0	-	Leblond2019 E
MAP2K1	AU018703	chr15: 66727483-66727483	G	A	exonic		Unknown	nonsynonymous SNV	NM_002755	c.G199A	p.D67N	36.0	-	Zhou2019 T

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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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