Variant Results

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Results for "DUSP15"

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
DUSP15	10C108663	chr20: 30450489-30450489	G	A	exonic		De novo	nonsynonymous SNV	NM_001012644 NM_080611 NM_177991	c.C11T c.C320T c.C11T	p.T4M p.T107M p.T4M	28.7	3.0E-4	Neale2012 E
DUSP15	SP0026940	chr20: 30457995-30457995	G	A	UTR5		De novo					-	-	Fu2022 E
DUSP15	SP0014140	chr20: 30451996-30451996	G	A	intronic		De novo					-	-	Fu2022 E
DUSP15	5-0050-004	chr20: 30458333-30458333	T	C	UTR5		De novo					-	0.0069	Yuen2017 G
DUSP15	1360JS0033	chr20: 30450489-30450489	G	A	exonic		De novo	nonsynonymous SNV	NM_001012644 NM_080611 NM_177991	c.C11T c.C320T c.C11T	p.T4M p.T107M p.T4M	28.7	3.0E-4	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E
DUSP15	iHART2815	chr20: 30449218-30449218	C	CT	exonic		Maternal	frameshift insertion	NM_001012644 NM_080611 NM_177991	c.386dupA c.695dupA c.386dupA	p.K129fs p.K232fs p.K129fs	-	-	Ruzzo2019 G

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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